(used for variant description)
(last modified August 31, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000054.4 in the AVPR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008687.1, covering AVPR2 transcript NM_000054.4.
(upstream sequence)
. g.7555
cttgctcctca c.-61
. . . . . . g.7615
ggcagaggctgagtccgcacatcacctccaggccctcagaacacctgccccagccccacc c.-1
. . | 02 . . . . g.8036
ATGCTCATGGCGTCCACCACTTCCG | CTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCC c.60
M L M A S T T S A | V P G H P S L P S L P p.20
. . . . . . g.8096
AGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAG c.120
S N S S Q E R P L D T R D P L L A R A E p.40
. . . . . . g.8156
CTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCG c.180
L A L L S I V F V A V A L S N G L V L A p.60
. . . . . . g.8216
GCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCAC c.240
A L A R R G R R G H W A P I H V F I G H p.80
. . . . . . g.8276
TTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAG c.300
L C L A D L A V A L F Q V L P Q L A W K p.100
. . . . . . g.8336
GCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATG c.360
A T D R F R G P D A L C R A V K Y L Q M p.120
. . . . . . g.8396
GTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCC c.420
V G M Y A S S Y M I L A M T L D R H R A p.140
. . . . . . g.8456
ATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTG c.480
I C R P M L A Y R H G S G A H W N R P V p.160
. . . . . . g.8516
CTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAG c.540
L V A W A F S L L L S L P Q L F I F A Q p.180
. . . . . . g.8576
CGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGG c.600
R N V E G G S G V T D C W A C F A E P W p.200
. . . . . . g.8636
GGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGT c.660
G R R T Y V T W I A L M V F V A P T L G p.220
. . . . . . g.8696
ATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCA c.720
I A A C Q V L I F R E I H A S L V P G P p.240
. . . . . . g.8756
TCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCC c.780
S E R P G G R R R G R R T G S P G E G A p.260
. . . . . . g.8816
CACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTAT c.840
H V S A A V A K T V R M T L V I V V V Y p.280
. . . . . . g.8876
GTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCA c.900
V L C W A P F F L V Q L W A A W D P E A p.300
. | 03 . . . . . g.9042
CCTCTGGAAG | GGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACC c.960
P L E G | A P F V L L M L L A S L N S C T p.320
. . . . . . g.9102
AACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTC c.1020
N P W I Y A S F S S S V S S E L R S L L p.340
. . . . . . g.9162
TGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACC c.1080
C C A R G R T P P S L G P Q D E S C T T p.360
. . . g.9198
GCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGA c.1116
A S S S L A K D T S S X p.371
. . . . . . g.9258
ggagctgttgggtgtcttgcctctagaggctttgagaagctcagctgccttcctggggct c.*60
. . . . . . g.9318
ggtcctgggagccactgggagggggacccgtggagaattggccagagcctgtggccccga c.*120
. . . . . . g.9378
ggctgggacactgtgtggccctggacaagccacagcccctgcctgggtctccacatcccc c.*180
. . . . . . g.9438
agctgtatgaggagagcttcaggccccaggactgtgggggcccctcaggtcagctcactg c.*240
. . . . . . g.9498
agctgggtgtaggaggggctgcagcagaggcctgaggagtggcaggaaagagggagcagg c.*300
. . . . . . g.9558
tgcccccaggtgagacagcggtcccaggggcctgaaaaggaaggaccaggctggggccag c.*360
. . . . . . g.9618
gggaccttcctgtctccgcctttctaatccctccctcctcattctctccctaataaaaat c.*420
. g.9636
tggagctcattttccaca c.*438
(downstream sequence)
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