(used for variant description)
(last modified July 26, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001846.2 in the COL4A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering COL4A2 transcript NM_001846.2.
(upstream sequence)
. . . . g.5049
gagtgtggctgcagtgcgccgggacaccagggctccgcgctccgcactc c.-241
. . . . . . g.5109
aagaggctcccgcgtcccaacccctcgcgcccgcgcgttcgcggatccaggccgaggacc c.-181
. . . . . . g.5169
gaaaggggccgcccgagcccccggggccggcgcccagagagcccagcaaggccggccgcc c.-121
. . . . . . g.5229
ctgccggtgtgccgccggcgggtgcttctggaagggccaatgcgttcgggcagcagcccc c.-61
. . | 02 . . . . g.5620
tgaagccgagcccgag | gctaagtgggactgaccggggcccagagtggacgaaccgccagc c.-1
. . . . | 03 . . g.5801
ATGGGGAGAGACCAGCGCGCGGTGGCCGGCCCTGCCCTACGGCG | GTGGCTGCTGCTGGGG c.60
M G R D Q R A V A G P A L R R | W L L L G p.20
. . . | 04 . . g.55209
ACAGTGACCGTGGGGTTCCTCGCCCAGAGCGTCTTGGCG | GGTGTGAAGAAGTTTGATGTG c.120
T V T V G F L A Q S V L A | G V K K F D V p.40
. . . . . . g.55269
CCGTGTGGAGGAAGAGATTGCAGTGGGGGCTGCCAGTGCTACCCTGAGAAAGGTGGACGT c.180
P C G G R D C S G G C Q C Y P E K G G R p.60
| 05 . . . . . . g.122510
| GGTCAGCCTGGGCCAGTGGGCCCCCAGGGGTACAATGGGCCACCAGGATTACAAGGATTC c.240
| G Q P G P V G P Q G Y N G P P G L Q G F p.80
. . . . . . g.122570
CCGGGACTGCAGGGACGTAAAGGAGACAAGGGTGAAAGGGGAGCCCCCGGAGTAACGGGA c.300
P G L Q G R K G D K G E R G A P G V T G p.100
. | 06 . . . . . g.122714
CCCAAGGGCGACGTG | GGAGCAAGAGGCGTTTCTGGATTCCCTGGTGCCGATGGAATTCCT c.360
P K G D V | G A R G V S G F P G A D G I P p.120
| 07 . . . . . . g.126243
| GGACACCCGGGGCAAGGTGGGCCCAGGGGAAGGCCGGGCTACGATGGCTGCAACGGAACC c.420
| G H P G Q G G P R G R P G Y D G C N G T p.140
. . . . . | 08. g.127604
CAGGGAGACTCAGGTCCACAGGGGCCCCCCGGCTCTGAGGGGTTCACCGGGCCTCCC | GGG c.480
Q G D S G P Q G P P G S E G F T G P P | G p.160
. . . . . . g.127664
CCCCAAGGACCAAAAGGGCAGAAAGGTGAGCCTTATGCACTGCCTAAAGAGGAGCGCGAC c.540
P Q G P K G Q K G E P Y A L P K E E R D p.180
| 09 . . . | 10 . . g.128276
AGATATCGG | GGTGAACCTGGAGAGCCTGGATTGGTCGGTTTCCAG | GGACCTCCCGGCCGC c.600
R Y R | G E P G E P G L V G F Q | G P P G R p.200
. . . . | 11 . g.130053
CCTGGGCATGTGGGACAGATGGGTCCAGTTGGAGCTCCAGGGAGACCA | GGACCACCTGGA c.660
P G H V G Q M G P V G A P G R P | G P P G p.220
. . | 12 . . . . g.132153
CCCCCTGGACCAAAAGGACAGCAA | GGCAACAGAGGACTTGGTTTCTACGGAGTTAAGGGT c.720
P P G P K G Q Q | G N R G L G F Y G V K G p.240
| 13 . . . . . . g.134039
GAAAAG | GGTGACGTAGGGCAGCCGGGACCCAACGGGATTCCATCAGACACCCTCCACCCC c.780
E K | G D V G Q P G P N G I P S D T L H P p.260
. . . . | 14 . . g.135733
ATCATCGCGCCCACAGGAGTCACCTTCCACCCAGATCAGTACAAG | GGTGAAAAAGGCAGT c.840
I I A P T G V T F H P D Q Y K | G E K G S p.280
. . | 15 . . . . g.136373
GAGGGGGAACCAGGAATAAGA | GGCATTTCCTTGAAGGGAGAAGAAGGAATCATGGGCTTT c.900
E G E P G I R | G I S L K G E E G I M G F p.300
. | 16 . . . . | 17. g.143548
CCTGGACTGAGG | GGTTACCCTGGCTTGAGTGGTGAAAAAGGATCACCAGGACAGAAG | GGA c.960
P G L R | G Y P G L S G E K G S P G Q K | G p.320
. . . . . | 18 . g.144523
AGCCGAGGCCTGGATGGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAG | GGAGAAGCC c.1020
S R G L D G Y Q G P D G P R G P K | G E A p.340
. . . . . | 19 g.147397
GGAGACCCAGGGCCCCCTGGACTACCTGCCTACTCCCCTCACCCTTCCCTAGCAAAAG | GT c.1080
G D P G P P G L P A Y S P H P S L A K G | p.360
. . . . . . g.147457
GCCAGAGGTGACCCGGGATTCCCAGGGGCCCAAGGGGAGCCAGGAAGCCAGGGTGAGCCA c.1140
A R G D P G F P G A Q G E P G S Q G E P p.380
. . . . | 20 . g.148032
GGAGACCCGGGCCTCCCAGGTCCCCCTGGCCTCTCCATCGGAGATGGAG | ATCAGAGGAGA c.1200
G D P G L P G P P G L S I G D G D | Q R R p.400
. . . . . . g.148092
GGCCTGCCGGGTGAGATGGGACCCAAGGGCTTCATCGGAGACCCCGGCATCCCTGCGCTC c.1260
G L P G E M G P K G F I G D P G I P A L p.420
. . . . . . g.148152
TACGGGGGCCCACCTGGACCTGATGGAAAGCGAGGGCCTCCAGGACCCCCCGGGCTCCCT c.1320
Y G G P P G P D G K R G P P G P P G L P p.440
. | 21 . . . . g.155100
GGACCACCTGGACCTGATG | GCTTCCTGTTTGGGCTGAAAGGAGCAAAAGGAAGAGCAGGC c.1380
G P P G P D G | F L F G L K G A K G R A G p.460
. . . . . | 22 . g.156495
TTCCCTGGGCTTCCCGGCTCCCCTGGAGCCCGCGGACCAAAGGGGTGGAAAG | GTGACGCT c.1440
F P G L P G S P G A R G P K G W K G | D A p.480
. . . . . . g.156555
GGGGAATGCAGATGTACAGAAGGCGACGAAGCTATCAAAGGTCTTCCGGGACTGCCAGGA c.1500
G E C R C T E G D E A I K G L P G L P G p.500
. . . . . . g.156615
CCCAAGGGCTTCGCAGGCATCAACGGGGAGCCGGGGAGGAAAGGGGACAGAGGAGACCCC c.1560
P K G F A G I N G E P G R K G D R G D P p.520
. . . | 23 . . . g.159854
GGCCAACACGGCCTCCCTGGGTTCCCAGGGCTCAAG | GGAGTGCCTGGCAACATTGGTGCT c.1620
G Q H G L P G F P G L K | G V P G N I G A p.540
. . . . | 24 . g.160005
CCCGGACCCAAAGGAGCAAAAGGAGATTCCAGAACAATCACAACCAAAG | GTGAGCGGGGA c.1680
P G P K G A K G D S R T I T T K G | E R G p.560
. . . . . . g.160065
CAGCCCGGCGTCCCAGGTGTGCCCGGGATGAAAGGTGACGATGGCAGCCCAGGCCGCGAT c.1740
Q P G V P G V P G M K G D D G S P G R D p.580
. . . | 25 . . . g.163145
GGGCTCGATGGATTCCCCGGCCTCCCAGGCCCTCCC | GGTGATGGCATCAAGGGCCCTCCA c.1800
G L D G F P G L P G P P | G D G I K G P P p.600
. . . . . . g.163205
GGGGACCCAGGCTATCCAGGAATACCTGGAACGAAGGGTACTCCAGGAGAAATGGGCCCC c.1860
G D P G Y P G I P G T K G T P G E M G P p.620
. . . . . . g.163265
CCAGGACTGGGCCTTCCCGGCCTCAAAGGCCAACGTGGTTTCCCTGGAGACGCCGGCTTA c.1920
P G L G L P G L K G Q R G F P G D A G L p.640
. . . . . | 26 g.163721
CCTGGACCACCAGGCTTCCTGGGCCCTCCTGGCCCCGCAGGGACCCCAGGACAAATAG | AT c.1980
P G P P G F L G P P G P A G T P G Q I D | p.660
. . . . . | 27 g.164758
TGTGACACAGATGTGAAAAGGGCCGTTGGAGGTGACAGACAGGAGGCCATCCAGCCAG | GT c.2040
C D T D V K R A V G G D R Q E A I Q P G | p.680
. . . . . | 28 . g.166938
TGCATAGGAGGGCCCAAGGGATTGCCAGGCCTGCCAGGACCCCCAGGCCCCACAG | GTGCC c.2100
C I G G P K G L P G L P G P P G P T G | A p.700
. . . . . . g.166998
AAAGGCCTCCGAGGAATCCCAGGCTTCGCAGGAGCTGATGGAGGACCAGGGCCCAGGGGC c.2160
K G L R G I P G F A G A D G G P G P R G p.720
. . . . | 29 . . g.170662
TTGCCAGGAGACGCAGGTCGTGAAGGGTTCCCAGGACCCCCAG | GGTTCATAGGACCCCGA c.2220
L P G D A G R E G F P G P P G | F I G P R p.740
. . . . . . g.170722
GGATCCAAAGGTGCAGTGGGCCTCCCTGGCCCAGATGGATCCCCAGGTCCCATCGGCCTG c.2280
G S K G A V G L P G P D G S P G P I G L p.760
. . . . . . g.170782
CCAGGGCCAGATGGGCCCCCTGGGGAAAGGGGCCTCCCTGGAGAAGTCCTGGGAGCTCAG c.2340
P G P D G P P G E R G L P G E V L G A Q p.780
. . . . . . g.170842
CCCGGGCCACGGGGAGATGCTGGTGTGCCTGGACAGCCTGGGCTTAAAGGCCTTCCCGGA c.2400
P G P R G D A G V P G Q P G L K G L P G p.800
. . | 30 . . . . g.175754
GACAGAGGCCCCCCTGGATTCAGAG | GAAGCCAAGGGATGCCTGGGATGCCAGGGCTGAAG c.2460
D R G P P G F R G | S Q G M P G M P G L K p.820
. . . . . . g.175814
GGCCAGCCAGGCCTCCCAGGACCTTCCGGCCAGCCAGGCCTGTATGGGCCTCCAGGACTG c.2520
G Q P G L P G P S G Q P G L Y G P P G L p.840
. . . . . . g.175874
CATGGATTCCCAGGAGCTCCTGGCCAAGAGGGGCCCTTGGGGCTGCCAGGAATCCCAGGC c.2580
H G F P G A P G Q E G P L G L P G I P G p.860
| 31. . . . . . g.177989
CGTGAAG | GTCTGCCTGGTGATAGAGGGGACCCTGGGGACACAGGCGCTCCTGGCCCTGTG c.2640
R E G | L P G D R G D P G D T G A P G P V p.880
. . . . . . g.178049
GGCATGAAAGGTCTCTCTGGTGACAGAGGAGATGCTGGCTTCACAGGGGAGCAAGGCCAT c.2700
G M K G L S G D R G D A G F T G E Q G H p.900
. . . . . | 32 g.180234
CCAGGAAGCCCTGGATTTAAAGGAATTGATGGAATGCCTGGGACCCCCGGGCTAAAAG | GA c.2760
P G S P G F K G I D G M P G T P G L K G | p.920
. . . . . . g.180294
GATAGAGGCTCACCTGGGATGGATGGTTTCCAAGGCATGCCTGGACTCAAAGGGAGACCC c.2820
D R G S P G M D G F Q G M P G L K G R P p.940
. . . . . . g.180354
GGGTTTCCAGGGAGCAAAGGCGAGGCTGGATTTTTCGGAATACCCGGTCTGAAGGGTCTG c.2880
G F P G S K G E A G F F G I P G L K G L p.960
. . | 33 . . . . g.182659
GCTGGTGAGCCAGGTTTTAAAG | GCAGCCGAGGGGACCCTGGGCCCCCAGGACCACCTCCT c.2940
A G E P G F K G | S R G D P G P P G P P P p.980
. . . . . . g.182719
GTCATCCTGCCAGGAATGAAAGACATTAAAGGAGAGAAAGGAGATGAAGGGCCTATGGGG c.3000
V I L P G M K D I K G E K G D E G P M G p.1000
. . | 34 . . . . g.183406
CTGAAAGGATACCTGGGCGCAAAAG | GTATCCAAGGAATGCCAGGCATCCCAGGGCTGTCA c.3060
L K G Y L G A K G | I Q G M P G I P G L S p.1020
. . . . . . g.183466
GGAATCCCTGGGCTGCCTGGGAGGCCCGGCCACATCAAAGGAGTCAAGGGAGACATCGGA c.3120
G I P G L P G R P G H I K G V K G D I G p.1040
. . . . . . g.183526
GTCCCCGGCATCCCCGGTTTGCCAGGATTCCCTGGGGTGGCTGGCCCCCCTGGAATTACG c.3180
V P G I P G L P G F P G V A G P P G I T p.1060
. . | 35. . . . g.187194
GGATTCCCAGGATTCATAGGAAGCCGG | GGTGACAAAGGTGCCCCAGGGAGAGCAGGCCTG c.3240
G F P G F I G S R | G D K G A P G R A G L p.1080
. . . | 36 . . . g.187456
TATGGCGAGATTGGCGCGACTGGTGATTTCG | GTGACATCGGGGACACTATAAATTTACCA c.3300
Y G E I G A T G D F G | D I G D T I N L P p.1100
. . . . | 37 . . g.188963
GGAAGACCAGGCCTGAAGGGGGAGCGGGGCACCACTGGAATACCAG | GTCTGAAGGGATTC c.3360
G R P G L K G E R G T T G I P G | L K G F p.1120
. . . . . . g.189023
TTTGGAGAGAAGGGAACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGA c.3420
F G E K G T E G D I G F P G I T G V T G p.1140
. . . | 38 . . . g.189812
GTCCAAGGCCCTCCTGGACTTAAAGGACAAACAG | GCTTTCCAGGGCTGACTGGGCCTCCA c.3480
V Q G P P G L K G Q T G | F P G L T G P P p.1160
. . . . . . g.189872
GGGTCGCAGGGAGAGCTGGGGCGGATTGGACTGCCTGGTGGCAAAGGAGATGATGGCTGG c.3540
G S Q G E L G R I G L P G G K G D D G W p.1180
. . | 39 . . . . g.190965
CCGGGAGCTCCGGGCTTACCAG | GTTTTCCGGGACTCCGTGGGATCCGCGGCTTACACGGC c.3600
P G A P G L P G | F P G L R G I R G L H G p.1200
. . . | 40 . . . g.193084
TTGCCAGGCACCAAGGGCTTTCCAGGATCCCCAG | GTTCTGACATCCACGGAGACCCAGGC c.3660
L P G T K G F P G S P G | S D I H G D P G p.1220
. . . . . . g.193144
TTCCCAGGCCCTCCTGGGGAAAGAGGTGACCCAGGAGAGGCCAACACCCTTCCAGGCCCT c.3720
F P G P P G E R G D P G E A N T L P G P p.1240
. . . . | 41 . . g.199404
GTGGGAGTCCCAGGACAGAAAGGAGACCAAGGAGCTCCAG | GGGAACGAGGCCCACCTGGG c.3780
V G V P G Q K G D Q G A P G | E R G P P G p.1260
. . . . . . g.199464
AGCCCAGGACTTCAGGGGTTCCCTGGTATCACACCCCCTTCCAACATCTCTGGGGCACCT c.3840
S P G L Q G F P G I T P P S N I S G A P p.1280
. . . | 42. . . g.200860
GGTGACAAAGGGGCGCCAGGGATATTTGGCCTGAAAG | GTTATCGGGGCCCACCAGGGCCA c.3900
G D K G A P G I F G L K G | Y R G P P G P p.1300
. . . . . . g.200920
CCAGGTTCTGCTGCTCTTCCTGGAAGCAAAGGTGACACAGGGAACCCAGGAGCTCCAGGA c.3960
P G S A A L P G S K G D T G N P G A P G p.1320
. . . . . . g.200980
ACCCCAGGGACCAAAGGATGGGCCGGGGACTCCGGGCCCCAGGGCAGGCCTGGTGTGTTT c.4020
T P G T K G W A G D S G P Q G R P G V F p.1340
. | 43 . . . . g.201140
GGTCTCCCAGGAGAAAAAG | GGCCCAGGGGTGAACAAGGCTTCATGGGGAACACTGGACCC c.4080
G L P G E K G | P R G E Q G F M G N T G P p.1360
. . . . . | 44 g.201565
ACTGGGGCGGTGGGCGACAGAGGCCCCAAGGGACCCAAGGGAGACCCAGGATTCCCTG | GT c.4140
T G A V G D R G P K G P K G D P G F P G | p.1380
. . . . . . g.201625
GCCCCCGGGACTGTGGGAGCCCCCGGGATTGCAGGAATCCCCCAGAAGATTGCCGTCCAA c.4200
A P G T V G A P G I A G I P Q K I A V Q p.1400
. . . . . . g.201685
CCAGGGACAGTGGGTCCCCAGGGGAGGCGAGGCCCCCCTGGGGCACCGGGGGAGATGGGG c.4260
P G T V G P Q G R R G P P G A P G E M G p.1420
. . | 45 . . . . g.201899
CCCCAGGGCCCCCCCGGAGAACCAG | GTTTCCGTGGGGCTCCAGGGAAAGCTGGGCCCCAA c.4320
P Q G P P G E P G | F R G A P G K A G P Q p.1440
. . . . . . g.201959
GGAAGAGGTGGTGTGTCTGCTGTTCCCGGCTTCCGGGGAGATGAAGGACCCATAGGCCAC c.4380
G R G G V S A V P G F R G D E G P I G H p.1460
. . | 46 . . . . g.204169
CAGGGGCCGATTGGCCAAGAAG | GTGCACCAGGCCGTCCAGGGAGCCCGGGCCTGCCGGGT c.4440
Q G P I G Q E G | A P G R P G S P G L P G p.1480
. . . . . . g.204229
ATGCCAGGCCGCAGCGTCAGCATCGGCTACCTCCTGGTGAAGCACAGCCAGACGGACCAG c.4500
M P G R S V S I G Y L L V K H S Q T D Q p.1500
. . . . . . g.204289
GAGCCCATGTGCCCAGTGGGCATGAACAAACTCTGGAGTGGATACAGCCTGCTGTACTTC c.4560
E P M C P V G M N K L W S G Y S L L Y F p.1520
. . . | 47 . . . g.205677
GAGGGCCAGGAGAAGGCGCACAACCAGGACCTGG | GGCTGGCGGGCTCCTGCCTGGCGCGG c.4620
E G Q E K A H N Q D L G | L A G S C L A R p.1540
. . . . . . g.205737
TTCAGCACCATGCCCTTCCTGTACTGCAACCCTGGTGATGTCTGCTACTATGCCAGCCGG c.4680
F S T M P F L Y C N P G D V C Y Y A S R p.1560
. . . . . . g.205797
AACGACAAGTCCTACTGGCTCTCTACCACTGCGCCGCTGCCCATGATGCCCGTGGCCGAG c.4740
N D K S Y W L S T T A P L P M M P V A E p.1580
. . . . . . g.205857
GACGAGATCAAGCCCTACATCAGCCGCTGTTCTGTGTGTGAGGCCCCGGCCATCGCCATC c.4800
D E I K P Y I S R C S V C E A P A I A I p.1600
. . . . . . g.205917
GCGGTCCACAGTCAGGATGTCTCCATCCCACACTGCCCAGCTGGGTGGCGGAGTTTGTGG c.4860
A V H S Q D V S I P H C P A G W R S L W p.1620
. . | 48 . . . . g.209689
ATCGGATATTCCTTCCTCATG | CACACGGCGGCGGGAGACGAAGGCGGTGGCCAATCACTG c.4920
I G Y S F L M | H T A A G D E G G G Q S L p.1640
. . . . . . g.209749
GTGTCACCGGGCAGCTGTCTAGAGGACTTCCGCGCCACACCATTCATCGAATGCAATGGA c.4980
V S P G S C L E D F R A T P F I E C N G p.1660
. . . . . . g.209809
GGCCGCGGCACCTGCCACTACTACGCCAACAAGTACAGCTTCTGGCTGACCACCATTCCC c.5040
G R G T C H Y Y A N K Y S F W L T T I P p.1680
. . . . . . g.209869
GAGCAGAGCTTCCAGGGCTCGCCCTCCGCCGACACGCTCAAGGCCGGCCTCATCCGCACA c.5100
E Q S F Q G S P S A D T L K A G L I R T p.1700
. . . g.209908
CACATCAGCCGCTGCCAGGTGTGCATGAAGAACCTGTGA c.5139
H I S R C Q V C M K N L X p.1712
. . . . . . g.209968
gccggcgcgtgccaggaagggccattttggtgcttattcttaacttattacctcaggtgc c.*60
. . . . . . g.210028
caacccaaaaattggttttatttttttcttaaaaaaaaaaaagtctaccaaaggaatttg c.*120
. . . . . . g.210088
catccagcagcagcacttagacctgccagccactgtcaccgagcgggtgcaagcactcgg c.*180
. . . . . . g.210148
ggtccctggagggcaagccctgcccacagaaagccaggagcagccctggcccccatcagc c.*240
. . . . . . g.210208
cctgctagacgcaccgcctgaaggcacagctaaccacttcgcacacacccatgtaaccac c.*300
. . . . . . g.210268
tgcactttccaatgccacagacaactcacattgttcaactcccttctcggggtgggacag c.*360
. . . . . . g.210328
acgagacaacagcacacaggcagccagccgtggccagaggctcgaggggctcagggcctc c.*420
. . . . . . g.210388
aggcacccgtccccacacgagggccccgtgggtgggcctggccctgctttctacgccaat c.*480
. . . . . . g.210448
gttatgccagctccatgttctcccaaataccgttgatgtgaattattttaaaggcaaaac c.*540
. . . . . . g.210508
cgtgctctttattttaaaaaacactgataatcacactgcggtaggtcattcttttgccac c.*600
. . . . . . g.210568
atccctatagaccactgggtttggcaaaactcaggcagaagtggagacctttctagacat c.*660
. . . . . . g.210628
cattgtcagccttgctacttgaaggtacaccccatagggtcggaggtgctgtccccactg c.*720
. . . . . . g.210688
ccccacgttgtccctgagatttaacccctccactgctgggggtgagctgtactcttctga c.*780
. . . . . g.210744
ctgccccctcctgtgtaacgactacaaaataaaacttggttctgaatatttttaaa c.*836
(downstream sequence)
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