(used for variant description)
(last modified October 23, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001256617.1 in the TUBGCP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering TUBGCP2 transcript NM_001256617.1.
(upstream sequence)
. g.8194
ctcgccgccgtag c.-361
. . . . . . g.8254
gccccactggatcctacaactactttttccctcttttgctcacgcacctcgaagaactgg c.-301
. . . . . . g.8314
tgctcccgcgggaagcgcacggggcgcgcaacgaagcgaaagggcgcggccccagccgcg c.-241
. . . . . . g.8374
ggatcccgctctacaggcagcggctccgccgccccgggccccgcagcgaggcgggcgcac c.-181
. . . . . . g.8434
agcgcggggggcaactgcatcaccccgggcgcgggcgggcgcagcctgtcggccaccgtc c.-121
. . . . . . g.8494
cgcgagccgagccggacgtgacgtcacgctcacttccgccgccgtcgggggctgcgcggg c.-61
. . . | 02 . . . g.14396
ggctgtggctccgggactgcg | gagaacatattgtgatgttcgtgcctcagagctaaaact c.-1
. . . . . . g.14456
ATGAGTGAATTTCGGATTCACCATGACGTCAATGAACTGCTTAGCCTGCTGCGTGTCCAC c.60
M S E F R I H H D V N E L L S L L R V H p.20
. . . . . . g.14516
GGAGGAGATGGGGCTGAGGTCTACATTGACCTGCTTCAAAAGAACAGGACCCCGTACGTC c.120
G G D G A E V Y I D L L Q K N R T P Y V p.40
. . . | 03 . . . g.17254
ACTACCACTGTCTCTGCTCACAGTGCCAAG | GTTAAAATTGCAGAGTTTTCTCGTACTCCA c.180
T T T V S A H S A K | V K I A E F S R T P p.60
. . . . . . g.17314
GAAGACTTTCTAAAGAAATATGATGAACTGAAATCTAAAAATACAAGGAACCTTGACCCG c.240
E D F L K K Y D E L K S K N T R N L D P p.80
. . . | 04 . . g.17755
CTGGTGTACCTGTTGTCAAAGCTCACGGAAGACAAAGAG | ACTCTGCAGTACTTACAACAG c.300
L V Y L L S K L T E D K E | T L Q Y L Q Q p.100
. . . . . . g.17815
AATGCAAAAGAAAGAGCTGAGCTTGCAGCCGCTGCTGTGGGCAGCAGTACCACCAGCATC c.360
N A K E R A E L A A A A V G S S T T S I p.120
. . . . . . g.17875
AACGTCCCTGCCGCGGCCTCCAAGATCTCCATGCAGGAGCTTGAGGAACTGAGGAAGCAG c.420
N V P A A A S K I S M Q E L E E L R K Q p.140
. . . | 05 . . . g.19250
CTTGGCAGCGTGGCCACAGGCTCCACGCTGCAGCAG | TCTCTGGAACTTAAAAGAAAGATG c.480
L G S V A T G S T L Q Q | S L E L K R K M p.160
. . . . . . g.19310
CTTCGAGACAAGCAGAACAAAAAAAATTCAGGCCAGCACCTCCCCATCTTCCCAGCATGG c.540
L R D K Q N K K N S G Q H L P I F P A W p.180
. . . . . . g.19370
GTGTATGAGAGACCTGCCCTGATCGGGGATTTCCTGATTGGTGCTGGCATCAGCACAGAC c.600
V Y E R P A L I G D F L I G A G I S T D p.200
. | 06 . . . . . g.19977
ACCGCTTTGCCGATAG | TTCTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGAAGTGC c.660
T A L P I V | L L R W N L A L S P R L K C p.220
. . . . | 07 . . g.23588
AGTGGCGTGATCTCGGCACACTGCAACCTCCACCTCCCAG | GCACGTTGCCCCTGGCCTCG c.720
S G V I S A H C N L H L P G | T L P L A S p.240
. . . . . . g.23648
CAGGAGTCGGCCGTGGTGGAGGACCTGCTGTACGTGCTGGTGGGCGTGGACGGGAGGTAC c.780
Q E S A V V E D L L Y V L V G V D G R Y p.260
. . . . . . g.23708
GTCAGTGCTCAGCCCCTGGCTGGGAGGCAGAGCCGGACCTTCCTCGTGGACCCCAACCTG c.840
V S A Q P L A G R Q S R T F L V D P N L p.280
. . . . . . g.23768
GACCTGTCCATCAGGGAGCTGGTGCACAGGATCCTCCCAGTGGCCGCCAGCTACTCCGCT c.900
D L S I R E L V H R I L P V A A S Y S A p.300
| 08 . . . . . g.24151
GTGACCAG | GTTCATTGAAGAGAAGTCTTCCTTCGAGTACGGGCAGGTGAACCACGCCCTG c.960
V T R | F I E E K S S F E Y G Q V N H A L p.320
. . . . . . g.24211
GCGGCCGCCATGCGCACCCTGGTGAAGGAGCACCTGATTCTGGTGTCACAGCTGGAGCAG c.1020
A A A M R T L V K E H L I L V S Q L E Q p.340
. . . . . . g.24271
CTGCACAGGCAGGGCCTCCTTTCGCTGCAGAAGCTCTGGTTCTACATCCAGCCAGCCATG c.1080
L H R Q G L L S L Q K L W F Y I Q P A M p.360
. . | 09 . . . g.24681
CGCACCATGGACATCCTGGCCTCCCTCG | CCACCTCGGTGGACAAAGGCGAATGTCTTGGG c.1140
R T M D I L A S L A | T S V D K G E C L G p.380
. . . . . . g.24741
GGGTCCACGCTGAGCCTGCTCCACGACAGGAGCTTCAGCTACACAGGGGACAGCCAGGCG c.1200
G S T L S L L H D R S F S Y T G D S Q A p.400
. . . . . . g.24801
CAGGAGCTATGCCTGTACCTAACCAAGGCGGCCAGTGCTCCCTACTTCGAGGTTCTGGAG c.1260
Q E L C L Y L T K A A S A P Y F E V L E p.420
. . . | 10 . . g.27390
AAGTGGATCTACAGGGGCATCATCCACGACCCATACAG | TGAGTTTATGGTCGAGGAGCAC c.1320
K W I Y R G I I H D P Y S | E F M V E E H p.440
. . . . . . g.27450
GAGCTGCGGAAGGAGAGGATCCAGGAGGATTACAACGACAAGTACTGGGACCAGCGGTAC c.1380
E L R K E R I Q E D Y N D K Y W D Q R Y p.460
. . . . . . g.27510
ACCATCGTCCAGCAGCAGATCCCGTCCTTCCTGCAGAAAATGGCGGACAAGATCCTCAGC c.1440
T I V Q Q Q I P S F L Q K M A D K I L S p.480
| 11 . . . . . . g.28373
ACAG | GAAAATATCTAAATGTGGTCAGAGAGTGTGGCCATGACGTCACCTGCCCGGTGGCT c.1500
T G | K Y L N V V R E C G H D V T C P V A p.500
. . . . . . g.28433
AAAGAGATCATCTACACGTTAAAAGAGCGGGCGTATGTGGAGCAGATCGAGAAGGCGTTT c.1560
K E I I Y T L K E R A Y V E Q I E K A F p.520
. . . . . . g.28493
AACTACGCCAGCAAGGTGCTGCTGGACTTCCTGATGGAGGAGAAGGAGCTGGTGGCTCAC c.1620
N Y A S K V L L D F L M E E K E L V A H p.540
| 12 . . . . . . g.29083
CTCAG | GTCCATCAAGCGCTACTTCCTCATGGACCAGGGCGACTTCTTCGTGCACTTCATG c.1680
L R | S I K R Y F L M D Q G D F F V H F M p.560
. . . . . . g.29143
GACCTCGCGGAGGAGGAGCTCCGGAAGCCGGTGGAGGACATCACGCCCCCTCGCCTGGAA c.1740
D L A E E E L R K P V E D I T P P R L E p.580
. . . . . . g.29203
GCGCTCCTGGAGCTGGCGCTGCGCATGAGCACGGCCAACACTGACCCCTTCAAGGACGAC c.1800
A L L E L A L R M S T A N T D P F K D D p.600
| 13 . . . . . . g.31763
CTCAAG | ATCGACCTGATGCCCCATGACCTCATCACTCAGCTCTTGCGCGTCCTGGCCATC c.1860
L K | I D L M P H D L I T Q L L R V L A I p.620
. . . . . . g.31823
GAGACCAAGCAGGAGAAGGCGATGGCGCACGCCGACCCCACGGAGCTGGCGCTGAGCGGC c.1920
E T K Q E K A M A H A D P T E L A L S G p.640
. . . . . | 14 g.32125
CTGGAGGCCTTCTCTTTCGACTACATCGTCAAGTGGCCCCTTTCGCTCATCATCAACAG | G c.1980
L E A F S F D Y I V K W P L S L I I N R | p.660
. . . . . . g.32185
AAAGCCCTCACTCGCTACCAGATGCTCTTCAGGCACATGTTCTACTGCAAGCACGTGGAG c.2040
K A L T R Y Q M L F R H M F Y C K H V E p.680
. . . . . . g.32245
CGGCAGCTCTGCAGCGTCTGGATCAGCAACAAAACCGCCAAGCAGCACTCGCTGCACTCC c.2100
R Q L C S V W I S N K T A K Q H S L H S p.700
| 15 . . . . . g.33387
GCCCAGTG | GTTTGCTGGGGCTTTCACTCTGCGGCAGCGAATGCTCAACTTCGTCCAGAAT c.2160
A Q W | F A G A F T L R Q R M L N F V Q N p.720
. . . . . . g.33447
ATTCAATACTACATGATGTTTGAAGTGATGGAACCGACCTGGCACATCCTGGAGAAAAAC c.2220
I Q Y Y M M F E V M E P T W H I L E K N p.740
| 16 . . . . . g.34167
CTGAAATCC | GCCTCCAACATTGACGACGTCCTTGGCCACCACACAGGCTTCCTGGACACC c.2280
L K S | A S N I D D V L G H H T G F L D T p.760
. . . . . . g.34227
TGCCTGAAGGACTGCATGCTCACCAACCCCGAGCTGCTGAAGGTCTTCTCCAAGCTCATG c.2340
C L K D C M L T N P E L L K V F S K L M p.780
. . . | 17 . . . g.35022
TCTGTGTGCGTCATGTTCACCAACTGCATGCAG | AAATTTACACAGAGCATGAAATTAGAT c.2400
S V C V M F T N C M Q | K F T Q S M K L D p.800
. . . . . . g.35082
GGCGAGCTGGGCGGGCAGACGCTGGAGCACAGCACCGTCCTGGGGCTGCCCGCAGGGGCC c.2460
G E L G G Q T L E H S T V L G L P A G A p.820
. . . | 18 . . . g.35928
GAGGAGCGGGCCCGGAAGGAGCTCGCCAGGAAG | CACCTGGCTGAGCACGCAGACACTGTG c.2520
E E R A R K E L A R K | H L A E H A D T V p.840
. . . . . . g.35988
CAGCTGGTGTCCGGCTTCGAGGCCACCATCAACAAGTTTGACAAGAACTTCTCAGCCCAC c.2580
Q L V S G F E A T I N K F D K N F S A H p.860
. . . . . . g.36048
CTGCTGGACCTCCTGGCCCGGCTGAGCATCTATAGCACCAGTGACTGTGAGCACGGCATG c.2640
L L D L L A R L S I Y S T S D C E H G M p.880
. | 19. . . . . g.37479
GCCAGCGTCATCTCCAG | GCTTGACTTCAATGGTTTCTACACGGAGCGCCTGGAGCGCCTG c.2700
A S V I S R | L D F N G F Y T E R L E R L p.900
. . . . . . g.37539
TCTGCAGAGAGGAGCCAGAAGGCCACCCCCCAAGTGCCTGTCCTGCGGGGGCCCCCGGCT c.2760
S A E R S Q K A T P Q V P V L R G P P A p.920
. . . g.37572
CCTGCACCCAGGGTCGCAGTCACCGCACAGTGA c.2793
P A P R V A V T A Q X p.930
. . . . . . g.37632
gccctggctgtgacaggaaggaagggtgtggggtcagcagggactggtgcaaatgggtcc c.*60
. . . . . . g.37692
agaattttcaaatcgaatgctctgtgttctgtctttgcagtttaaatataaagcaggaat c.*120
. . . . . . g.37752
gattgactcagctcactttgtttctcaaggcgctgggtttcgttttatagaagctgccca c.*180
. . . . . . g.37812
ggcagggtggatgtctccctggatttgctaatctgtttgctttttgaaattacactatca c.*240
. . . . . . g.37872
cctttttgggtgtttttggcctcaaagtggaaatacatggtgtttaagccaggagcaagc c.*300
. . . . . . g.37932
aaagatgcatgtggggtaagatccaggcctggtgtccacatctttccgggtgagctgggg c.*360
. . . . . . g.37992
ccgggcttcctgaggtctgtcggaaccgggacaagcctctggaaacggtcagggagttgt c.*420
. . . . . . g.38052
ggaaacccaccgggcatcgggtgtcgggtttgctttggccccagaggcagccccgttcct c.*480
. . . . . . g.38112
tctcctgaggactcacccgcctccacgaccctcctcctgctgctgctccaactggtccag c.*540
. . . . . . g.38172
ggcaggaggccacagacagggccctcaggcaccctgggagcccacacctccccctccgtg c.*600
. . . . . . g.38232
ggagtgggtcgaggggcaggctctgctgctggctggaaaccccaccccgccctatccggt c.*660
. . . . . . g.38292
accgccttgttacgtagaacttactcagcagactgacacccaatccccctcgggcgatca c.*720
. . . . . . g.38352
tctgccctgtcttcccacctccagggctacagtgggcagcaccgccatccccagtgtgac c.*780
. . . . . . g.38412
agggccctgggagcctcagggctgcccggccaggttggtctgctctggttacattctggc c.*840
. . . . . . g.38472
caagctgccccttcctgctgacctgcatgtgtattgttgtcaccttcagctctcagcacc c.*900
. . . . . . g.38532
tcggcccccttgggcagtgaggaagggccctggaggcgaggttgggagaaaggatagcta c.*960
. . . . . . g.38592
gaacaggatcctgcggggaacaagggttgtgggcagctctcacccggggctgcctcactg c.*1020
. . . . . . g.38652
agagcaccgccgagtgggggtgggggtgtccaactctccagccacaaaccgcttcctcct c.*1080
. . . . . g.38708
tgtctgcaggctgtgcaggtctggcctgtgagtaaacacatttatcagcaacccaa c.*1136
(downstream sequence)
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