Canonical Allele Identifier: CA143485
Gene: USH2A HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216175347G>A
GRCh37 chr1:g.216348689G>A
Revel Score:
ENST00000307340 (MANE Select) 0.010
ENST00000366943 0.010
ENST00000366942 0.010
gnomAD v2:
1:216348689 G / A
gnomAD v3:
1:216175347 G / A
gnomAD v4:
chr1-216175347-G-A
Joint Max Group AF 0.00032214 (NFE)
Genomes Max Group AF 0.00018201 (NFE)
Exomes Max Group AF 0.00032473 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216175347G>A , CM000663.2:g.216175347G>A GRCh38
NC_000001.10:g.216348689G>A , CM000663.1:g.216348689G>A GRCh37
NC_000001.9:g.214415312G>A NCBI36
NG_009497.1:g.253050C>T
NG_009497.2:g.253102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4532C>T MANE Select ENSP00000305941.3:p.Ala1511Val
ENST00000674083.1:c.4532C>T ENSP00000501296.1:p.Ala1511Val
ENST00000307340.7:c.4532C>T ENSP00000305941.3:p.Ala1511Val
ENST00000366942.3:c.4532C>T ENSP00000355909.3:p.Ala1511Val
NM_007123.5:c.4532C>T NP_009054.5:p.Ala1511Val
NM_206933.2:c.4532C>T NP_996816.2:p.Ala1511Val
NM_206933.3:c.4532C>T NP_996816.2:p.Ala1511Val
NM_007123.6:c.4532C>T NP_009054.6:p.Ala1511Val
NM_206933.4:c.4532C>T MANE Select NP_996816.3:p.Ala1511Val
Search 100 bp 5'
Search 100 bp 3'