(used for variant description)
(last modified January 23, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_004486.4 in the GOLGA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering GOLGA2 transcript NM_004486.4.
(upstream sequence)
. g.5013
cgggatcgcgctg c.-1
. . . . . . g.5073
ATGTGGCCCCAACCCCGCCTCCCTCCCCGCCCCGCGATGTCGGAAGAAACCCGACAGAGC c.60
M W P Q P R L P P R P A M S E E T R Q S p.20
. . | 02 . . . . g.7053
AAATTGGCCGCAGCGAAGAAAAAG | TTGAGAGAATATCAGCAGAGGAATAGCCCTGGTGTT c.120
K L A A A K K K | L R E Y Q Q R N S P G V p.40
. . . . . . g.7113
CCTACAGGAGCGAAAAAGAAGAAGAAAATAAAAAATGGCAGTAACCCTGAGACAACCACT c.180
P T G A K K K K K I K N G S N P E T T T p.60
. . | 03. . . . g.12498
TCTGGTGGTTGCCACTCACCTGAGGAT | ACACCCAAGGACAATGCTGCTACTCTACAACCA c.240
S G G C H S P E D | T P K D N A A T L Q P p.80
. . . . . . g.12558
TCTGATGACACCGTGTTACCTGGCGGTGTCCCTTCCCCTGGTGCCAGTCTCACTAGCATG c.300
S D D T V L P G G V P S P G A S L T S M p.100
. | 04 . . . . | 05 . g.12996
GCGGCATCTCAG | AATCATGATGCTGACAATGTCCCTAATCTCATGGATGAAACCAA | GACT c.360
A A S Q | N H D A D N V P N L M D E T K | T p.120
. . . . . . g.13056
TTCTCATCAACCGAGAGCCTGCGACAACTCTCCCAACAGCTCAATGGTCTTGTTTGTGAG c.420
F S S T E S L R Q L S Q Q L N G L V C E p.140
| 06 . . . . . . g.13532
| TCTGCGACATGTGTCAATGGGGAGGGCCCTGCATCGTCTGCTAACCTGAAGGATCTGGAG c.480
| S A T C V N G E G P A S S A N L K D L E p.160
| 07 . . . . . . g.13775
| AGCCGGTACCAACAGCTAGCGGTAGCCCTGGACTCCAGCTATGTAACAAACAAACAACTC c.540
| S R Y Q Q L A V A L D S S Y V T N K Q L p.180
. . | 08 . . . . g.14703
AATATCACGATAGAGAAATTG | AAACAACAGAACCAAGAAATTACGGATCAGTTGGAAGAA c.600
N I T I E K L | K Q Q N Q E I T D Q L E E p.200
| 09 . . . . . | 10 . g.15117
| GAAAAGAAAGAATGCCACCAAAAGCAGGGAGCCCTAAGGGAGCAGTTACAG | GTTCACATT c.660
| E K K E C H Q K Q G A L R E Q L Q | V H I p.220
. . . . . . g.15177
CAGACCATAGGGATCCTCGTATCAGAGAAAGCTGAGTTACAGACAGCCCTGGCTCACACT c.720
Q T I G I L V S E K A E L Q T A L A H T p.240
. . | 11 . . . . g.15333
CAGCATGCTGCCAGGCAGAAAGAAG | GAGAGTCTGAAGATCTGGCCAGCCGCCTGCAGTAT c.780
Q H A A R Q K E G | E S E D L A S R L Q Y p.260
. . . . . . g.15393
TCCCGGCGGCGTGTGGGAGAGTTGGAGCGGGCTCTCTCTGCTGTCTCCACGCAGCAGAAG c.840
S R R R V G E L E R A L S A V S T Q Q K p.280
. | 12 . . . . . g.17945
AAGGCAGACAGG | TACAACAAGGAGTTAACCAAAGAGAGAGACGCCCTCAGGCTGGAGTTA c.900
K A D R | Y N K E L T K E R D A L R L E L p.300
. | 13 . . . . . g.18334
TACAAGAACAC | CCAAAGCAATGAGGACCTGAAGCAAGAGAAATCAGAATTGGAAGAGAAG c.960
Y K N T | Q S N E D L K Q E K S E L E E K p.320
. . . . . . g.18394
CTTCGGGTCCTAGTGACTGAGAAGGCTGGCATGCAGCTTAACTTGGAAGAATTGCAAAAG c.1020
L R V L V T E K A G M Q L N L E E L Q K p.340
. . . | 14 . . . g.19259
AAGTTAGAGATGACGGAACTCCTGCTTCAACAG | TTTTCAAGCCGGTGTGAAGCCCCTGAT c.1080
K L E M T E L L L Q Q | F S S R C E A P D p.360
. . . . . . g.19319
GCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGG c.1140
A N Q Q L Q Q A M E E R A Q L E A H L G p.380
| 15 . . . . . . g.19485
CAG | GTAATGGAGTCGGTTAGACAACTACAAATGGAGAGAGATAAATATGCGGAGAATCTC c.1200
Q | V M E S V R Q L Q M E R D K Y A E N L p.400
. . . . . | 16 . g.19739
AAAGGAGAGAGCGCCATGTGGCGGCAGAGGATGCAGCAGATGTCAGAGCAG | GTGCACACA c.1260
K G E S A M W R Q R M Q Q M S E Q | V H T p.420
. . . . . . g.19799
TTGAGAGAGGAGAAGGAATGTAGCATGAGTCGGGTACAGGAGCTGGAGACGAGCTTGGCT c.1320
L R E E K E C S M S R V Q E L E T S L A p.440
. | 17 . . . . g.20228
GAACTGAGGAACCAGATGG | CTGAACCCCCGCCCCCAGAGCCCCCAGCAGGGCCCTCCGAG c.1380
E L R N Q M A | E P P P P E P P A G P S E p.460
. . . . . . g.20288
GTGGAGCAGCAGCTACAAGCGGAGGCTGAGCACCTGCGGAAGGAGCTGGAGGGTCTGGCA c.1440
V E Q Q L Q A E A E H L R K E L E G L A p.480
. . . . . . g.20348
GGACAGCTTCAAGCCCAGGTGCAAGACAATGAGGGCTTGAGTCGCCTGAACCGGGAGCAG c.1500
G Q L Q A Q V Q D N E G L S R L N R E Q p.500
. . . . . . g.20408
GAGGAGAGGCTGCTGGAGCTGGAGCGGGCGGCCGAGCTCTGGGGGGAGCAGGCGGAGGCG c.1560
E E R L L E L E R A A E L W G E Q A E A p.520
. . . . . . g.20468
CGCAGGCAAATCCTGGAGACCATGCAGAACGACCGCACTACCATCAGCCGCGCACTCTCC c.1620
R R Q I L E T M Q N D R T T I S R A L S p.540
. . . . . | 18. g.20803
CAGAACCGGGAGCTCAAGGAGCAGCTGGCTGAGCTGCAGAGCGGATTTGTAAAGCTG | ACT c.1680
Q N R E L K E Q L A E L Q S G F V K L | T p.560
. . . . . . g.20863
AATGAGAACATGGAGATCACCAGCGCACTGCAGTCGGAGCAGCACGTCAAGAGGGAGCTG c.1740
N E N M E I T S A L Q S E Q H V K R E L p.580
. . . . . | 19 . g.21607
GGAAAGAAGCTGGGCGAGCTGCAGGAGAAGCTGAGCGAGCTGAAGGAAACG | GTGGAGCTG c.1800
G K K L G E L Q E K L S E L K E T | V E L p.600
. . . . . . g.21667
AAGAGCCAAGAGGCTCAAAGTCTGCAGCAGCAGCGAGACCAGTACCTGGGACACCTGCAG c.1860
K S Q E A Q S L Q Q Q R D Q Y L G H L Q p.620
. . . . . . g.21727
CAGTATGTGGCCGCCTATCAGCAGCTGACCTCTGAGAAGGAGGTGCTGCATAATCAGCTA c.1920
Q Y V A A Y Q Q L T S E K E V L H N Q L p.640
. . . . . . g.21787
CTGCTGCAGACCCAGCTCGTGGACCAGCTGCAGCAGCAGGAAGCTCAGGGCAAAGCGGTG c.1980
L L Q T Q L V D Q L Q Q Q E A Q G K A V p.660
. . . | 20 . . . g.21931
GCCGAGATGGCCCGCCAAGAGTTGCAGGAAACCCAG | GAGCGCCTGGAAGCTGCCACCCAG c.2040
A E M A R Q E L Q E T Q | E R L E A A T Q p.680
. . . . . | 21 . g.22427
CAGAATCAGCAGCTACGGGCCCAGTTGAGCCTCATGGCTCACCCTGGGGAAG | GAGATGGA c.2100
Q N Q Q L R A Q L S L M A H P G E G | D G p.700
. . . . . . g.22487
CTGGACCGGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAGGAGGCGGTGGCAGTACCT c.2160
L D R E E E E D E E E E E E E A V A V P p.720
. . . . | 22 . g.22803
CAGCCCATGCCAAGCATCCCGGAGGACCTGGAGAGCCGGGAAGCCATG | GTGGCATTTTTC c.2220
Q P M P S I P E D L E S R E A M | V A F F p.740
. . . . . . g.22863
AACTCAGCTGTAGCCAGTGCCGAGGAGGAGCAGGCAAGGCTACGTGGGCAGCTGAAGGAG c.2280
N S A V A S A E E E Q A R L R G Q L K E p.760
. . . . . . g.22923
CAAAGGGTGCGCTGCCGGCGCCTGGCTCACCTGCTGGCCTCGGCCCAGAAGGAGCCTGAG c.2340
Q R V R C R R L A H L L A S A Q K E P E p.780
. . . . . . g.22983
GCAGCAGCCCCAGCCCCAGGGACCGGGGGTGATTCTGTGTGTGGGGAGACCCACCGGGCC c.2400
A A A P A P G T G G D S V C G E T H R A p.800
. . | 23. . . . g.23130
CTGCAGGGGGCCATGGAGAAGCTGCAG | AGCCGCTTTATGGAGCTCATGCAGGAGAAGGCA c.2460
L Q G A M E K L Q | S R F M E L M Q E K A p.820
. . . . . . g.23190
GACCTGAAGGAGAGGGTAGAGGAACTGGAACATCGCTGCATCCAGCTTTCTGGAGAGACA c.2520
D L K E R V E E L E H R C I Q L S G E T p.840
. | 24 . . . . . g.23332
GACACCATTG | GAGAGTACATTGCACTGTACCAGAGCCAGAGGGCAGTGCTGAAGGAGCGG c.2580
D T I G | E Y I A L Y Q S Q R A V L K E R p.860
. . . . . | 25. g.23467
CACCGGGAGAAGGAGGAGTACATCAGCAGGCTGGCCCAAGACAAGGAGGAGATGAAG | GTG c.2640
H R E K E E Y I S R L A Q D K E E M K | V p.880
. . . . . . g.23527
AAGCTGCTGGAGCTGCAGGAGCTGGTCTTACGGCTTGTGGGCGACCGCAACGAGTGGCAT c.2700
K L L E L Q E L V L R L V G D R N E W H p.900
. . . . . . g.23587
GGCAGATTCCTGGCAGCTGCCCAGAACCCTGCTGATGAGCCCACTTCAGGGGCCCCAGCC c.2760
G R F L A A A Q N P A D E P T S G A P A p.920
. . . | 26 . . . g.23734
CCCCAGGAACTTGGGGCTGCCAACCAGCAGGGTG | ATCTTTGCGAGGTGAGCCTCGCCGGC c.2820
P Q E L G A A N Q Q G D | L C E V S L A G p.940
. . . . . . g.23794
AGTGTGGAGCCTGCCCAAGGAGAGGCCAGGGAGGGTTCTCCCCGTGACAACCCCACTGCA c.2880
S V E P A Q G E A R E G S P R D N P T A p.960
. . . . . . g.23854
CAGCAGATCATGCAGCTGCTTCGTGAGATGCAGAACCCCCGGGAGCGCCCAGGCTTGGGC c.2940
Q Q I M Q L L R E M Q N P R E R P G L G p.980
. . . . . . g.23914
AGCAACCCCTGCATTCCTTTTTTTTACCGGGCTGACGAGAATGATGAGGTGAAGATCACT c.3000
S N P C I P F F Y R A D E N D E V K I T p.1000
g.23923
GTCATCTAA c.3009
V I X p.1002
. . . . . . g.23983
aagccggctactgtcagcaaagcctgaagaagtggggctggataccctgcccccaccata c.*60
. . . . . . g.24043
tccctaccatcccttctcagtcaaccctttacccttacagtagcaagcatagacccctgt c.*120
. . . . . . g.24103
ctaacgggggtagacaggtgcagatgaggtgaagatcactgtcatctaaaagctggccac c.*180
. . . . . . g.24163
taaattaaaaaaaaattaaaagttatgggattaaaaaaagttatgggataaaaaaggtta c.*240
. . . . . . g.24223
tgggtaacttatggtataaaagttatgaaaaaaggccaggtgcagtggctcacgcctgta c.*300
. . . . . . g.24283
atcccagcacttttgggaggctgaggttgggagttcaagaccagcctggtcaacatggtg c.*360
. . . . . . g.24343
aaactgtgtctctactaaaaatacaaaaattagccaggcatggtggcacgtgcctgtaat c.*420
. . . . . . g.24403
cccagctactcgggaggctgaggcaggagaatcgcttgaacctgggaggtggaggttgca c.*480
. . . . . . g.24463
gtgggctgagatcacgccattgcactccagcctgggcgacagagtgagactctgtctcaa c.*540
. . . . . . g.24523
aaaaaaaaaaaattatgaaaaaagttatgggattaaagaaagtcaggataaaaattttaa c.*600
. . . . . . g.24583
aaagcaggccactgtcagcaaagcctggagaagtggggccggaggctccgcccccatcat c.*660
. . . . . . g.24643
gtgcctgccaccccttcccagtcatccctttactcttacagtagcaaataagacccctgt c.*720
. . . . . . g.24703
ctaatggggggagacaaatgtgtagacccttagccaccttggccagggctgactccttaa c.*780
. . . . . . g.24763
atttctggatgatgatgattgttatttaatagccagaggctcatataattggcctctttg c.*840
. . . . . . g.24823
gaagaggcctcatggcctccttactctcaccaaagcaatttttccctcaggggggctccc c.*900
. . . . . . g.24883
atcttcttacacagagaggcagctgaggcaggacagtggggctaactgtagaccaggcga c.*960
. . . . . . g.24943
gggcacgggctgctggggtggccctgcttccccagtgtacatattgtatctgtgtaacat c.*1020
. . . . . . g.25003
tttgtatattccaggggtagggccgccccctgtatcatacctagcagaggttggagctgg c.*1080
. . . . . . g.25063
cacatggggaggaggttctaataattatttggggctgggaaacttatttattgatagcat c.*1140
. . . . . . g.25123
aggacagaggaaggaggcggggatggggtcgtggcgccctggtgatgcgactcctgttta c.*1200
. . . g.25161
ttttgctttttatttcggaataaatggatttagccata c.*1238
(downstream sequence)
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