(used for variant description)
(last modified March 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001693.3 in the ATP6V1B2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering ATP6V1B2 transcript NM_001693.3.
(upstream sequence)
. . . g.5034
gcctcccagcacgctggtcagctcctcttgctcg c.-181
. . . . . . g.5094
caagcaggtctggccccagcggcgcgaagtcacgaggctgggggcggccggcggcgaagg c.-121
. . . . . . g.5154
gggcggggcgaggccggggcgccgcagcgcgcataggcggagcctcgggccgcgggccgc c.-61
. . . . . . g.5214
cttggtatatctgcgcgtgcgcggcgtcgctgctgggccagtcgggacagaggagacaag c.-1
. . . . . . g.5274
ATGGCGCTGCGGGCGATGCGGGGGATTGTCAACGGGGCCGCACCCGAGCTACCCGTGCCC c.60
M A L R A M R G I V N G A A P E L P V P p.20
. . . . . . g.5334
ACCGGTGGGCCGGCGGTGGGAGCTCGGGAGCAGGCGCTGGCAGTCAGTCGGAACTACCTC c.120
T G G P A V G A R E Q A L A V S R N Y L p.40
. | 02 . . . . . g.12335
TCCCAGCCTCGCCTCA | CATACAAGACAGTATCTGGAGTCAATGGTCCACTAGTGATCTTA c.180
S Q P R L T | Y K T V S G V N G P L V I L p.60
. | 03 . . . . . g.17288
GATCATGTTAAG | TTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACA c.240
D H V K | F P R Y A E I V H L T L P D G T p.80
. . . . . | 04 . g.18162
AAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAG | GTATTTGAA c.300
K R S G Q V L E V S G S K A V V Q | V F E p.100
. . . . . . g.18222
GGGACTTCAGGTATAGATGCTAAGAAAACGTCCTGTGAGTTTACTGGGGATATTCTCCGA c.360
G T S G I D A K K T S C E F T G D I L R p.120
. . | 05 . . . . g.18411
ACACCGGTGTCTGAGGATATGCTTG | GTCGGGTATTCAATGGATCGGGAAAACCCATTGAC c.420
T P V S E D M L G | R V F N G S G K P I D p.140
. . . . | 06 . . g.19001
AGAGGTCCTGTTGTACTGGCCGAAGACTTCCTTGATATCATGG | GTCAGCCAATCAACCCT c.480
R G P V V L A E D F L D I M G | Q P I N P p.160
. . . . . . g.19061
CAATGTCGAATCTACCCAGAGGAAATGATTCAGACTGGCATTTCGGCCATCGATGGGATG c.540
Q C R I Y P E E M I Q T G I S A I D G M p.180
. . . . . . g.19121
AACAGTATTGCTAGGGGGCAGAAAATTCCTATCTTCTCTGCTGCTGGGCTACCACACAAT c.600
N S I A R G Q K I P I F S A A G L P H N p.200
| 07 . . . . . . g.19516
GAG | ATTGCAGCTCAGATCTGTCGCCAGGCTGGTTTGGTAAAGAAATCCAAAGATGTAGTA c.660
E | I A A Q I C R Q A G L V K K S K D V V p.220
. . . . | 08 . . g.19924
GACTACAGTGAGGAAAATTTTGCAATTGTATTTGCTGCTATGGGT | GTAAACATGGAAACT c.720
D Y S E E N F A I V F A A M G | V N M E T p.240
. . . . . . g.19984
GCCCGGTTCTTCAAATCTGACTTTGAAGAAAATGGCTCAATGGACAATGTCTGCCTCTTT c.780
A R F F K S D F E E N G S M D N V C L F p.260
. . | 09 . . . . g.20626
TTGAACTTGGCTAATGACCCAAC | CATTGAGCGAATTATCACTCCTCGCCTGGCTCTAACC c.840
L N L A N D P T | I E R I I T P R L A L T p.280
. . . . . . g.20686
ACAGCTGAATTTCTGGCGTACCAATGTGAGAAACATGTATTGGTTATTCTAACAGACATG c.900
T A E F L A Y Q C E K H V L V I L T D M p.300
. . | 10. . . . g.22658
AGTTCTTATGCTGAAGCACTTCGAGAG | GTTTCAGCAGCCAGGGAAGAGGTACCTGGTCGA c.960
S S Y A E A L R E | V S A A R E E V P G R p.320
. . . . . . g.22718
CGAGGTTTTCCAGGTTACATGTATACAGATTTAGCCACGATATATGAACGCGCTGGGCGA c.1020
R G F P G Y M Y T D L A T I Y E R A G R p.340
. . . . . | 11 g.24222
GTGGAAGGGAGAAACGGCTCGATTACTCAAATCCCTATTCTAACCATGCCTAATGATG | AT c.1080
V E G R N G S I T Q I P I L T M P N D D | p.360
. . . . . . g.24282
ATCACTCACCCCATCCCAGACTTGACTGGCTACATTACAGAGGGGCAGATCTATGTGGAC c.1140
I T H P I P D L T G Y I T E G Q I Y V D p.380
. . | 12 . . . . g.25066
AGACAGCTGCACAACAGACAG | ATTTATCCACCTATCAATGTGCTGCCCTCACTATCACGG c.1200
R Q L H N R Q | I Y P P I N V L P S L S R p.400
. . . . . . g.25126
TTAATGAAGTCTGCTATTGGAGAAGGGATGACCAGGAAGGATCATGCCGATGTATCTAAC c.1260
L M K S A I G E G M T R K D H A D V S N p.420
| 13 . . . . . . g.26014
CAGCTA | TATGCGTGCTATGCTATTGGAAAGGATGTGCAAGCCATGAAAGCTGTCGTTGGA c.1320
Q L | Y A C Y A I G K D V Q A M K A V V G p.440
. . . . . . g.26074
GAAGAAGCCCTTACCTCAGATGATCTTCTCTACTTGGAATTTCTGCAGAAGTTTGAGAGG c.1380
E E A L T S D D L L Y L E F L Q K F E R p.460
. | 14 . . . . . g.28114
AACTTCATTGCTCAGG | GTCCTTACGAAAATCGCACTGTCTTTGAGACTTTGGACATTGGC c.1440
N F I A Q G | P Y E N R T V F E T L D I G p.480
. . . . . . g.28174
TGGCAGCTACTCCGAATCTTCCCCAAAGAAATGCTGAAGAGAATCCCTCAGAGCACCCTC c.1500
W Q L L R I F P K E M L K R I P Q S T L p.500
. . . g.28210
AGCGAATTTTACCCTCGAGACTCTGCAAAGCATTAG c.1536
S E F Y P R D S A K H X p.511
. . . . . . g.28270
ctgctgcttctgcattgctccgcgctcttgtgaaatactggttctgttttctttattcct c.*60
. . . . . . g.28330
tttgcactctcggttcccacctttgtgttggagtttaccatgttaccctgtaattaaaaa c.*120
. . . . . . g.28390
caaagaataggtaacatattgtgccagtgttgcaacgttttaaactgctaacagacctta c.*180
. . . . . . g.28450
aaatatccccctacctgggtcctcagtgctatgtttaaagtgctgcagggatggagtggc c.*240
. . . . . . g.28510
gttttcttattgctgtatgtattgtacatagtggagtagttagttacctgataacagtct c.*300
. . . . . . g.28570
tgttatttgggtctcttagaccttacctctcaactccctcaagagtaccagtctctgaag c.*360
. . . . . . g.28630
ttataatgctttggtctctacattaggggcaagatccagtctgagagaagtctcctttga c.*420
. . . . . . g.28690
gaagggccaagaggctctttcctgagtgtttgctttcggtttgttggtatgcctgtattg c.*480
. . . . . . g.28750
ctgggctgtgctgctgctcgaagcagatggttttgactgtctttttgctctttcctatat c.*540
. . . . . . g.28810
aatgaatagatgagtgaaaggagttttctttttctctttagtacttacgtattgggattc c.*600
. . . . . . g.28870
ctgtgtcttacagctctccctctccaaataatacacagaatcctgcaactttttgcacag c.*660
. . . . . . g.28930
ctggtatctgtctggtagcagtgagaccccttgtcttggtgatccttactgggtttccaa c.*720
. . . . . . g.28990
gcagaggagtcacatgattacaattgccagtagagttgttgtttggggtacaagatgaga c.*780
. . . . . . g.29050
agaaagaaaaacctacagcctttctacattctgacatgctaacagtggtttaagtttcta c.*840
. . . . . . g.29110
aagtgtttaccagatgctgaaggcaaggggagggagcagaagcacttatgtttacggata c.*900
. . . . . . g.29170
ttttaaactctgttagagagcagcctttgaaaatccccaatttggttctgctttttgacc c.*960
. . . . . . g.29230
tctctctaccttttcagggtaatctttgtggcacaaacgatagcatttccaagctttaga c.*1020
. . . . . . g.29290
gttttctgaattcctgcgccttcctgacgtgagccctgagcgatcttctatgcagttctg c.*1080
. . . . . . g.29350
ccatgcgtcctgttggtctctctgtgttctttgttacttgggtgcaatagcaacttccct c.*1140
. . . . . . g.29410
accccgtgcattccatctttcatgttgtgtaaagttcttcacttttttctctgagggctg c.*1200
. . . . . . g.29470
ggggttgggggagtcagcatgattatattttaatgtagaaaatgtgacatctggatataa c.*1260
. . . g.29504
aatgaaaataaatgttaaattaaatggaccttaa c.*1294
(downstream sequence)
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