Canonical Allele Identifier: CA182592

Gene: USH2A

Linked Data

• ClinVar Variation Id: 178576
• ClinVar RCV Id: RCV000155324 ; RCV001531657 ; RCV001197770
• dbSNP Id: rs138326802
• ExAC: 1:215914831 G / A
• gnomAD v2: 1-215914831-G-A
• gnomAD v3: 1-215741489-G-A
• gnomAD v4: 1-215741489-G-A
• MyVariant Identifiers: chr1:g.215914831G>A (hg19) ; chr1:g.215741489G>A (hg38)
• PubMed: PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215741489G>A , CM000663.2:g.215741489G>A	GRCh38
NC_000001.10:g.215914831G>A , CM000663.1:g.215914831G>A	GRCh37
NC_000001.9:g.213981454G>A	NCBI36
NG_009497.1:g.686908C>T
NG_009497.2:g.686960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11597C>T MANE Select	ENSP00000305941.3:p.Ala3866Val
ENST00000674083.1:c.11597C>T	ENSP00000501296.1:p.Ala3866Val
ENST00000307340.7:c.11597C>T	ENSP00000305941.3:p.Ala3866Val
NM_206933.2:c.11597C>T	NP_996816.2:p.Ala3866Val
NM_206933.3:c.11597C>T	NP_996816.2:p.Ala3866Val
NM_206933.4:c.11597C>T MANE Select	NP_996816.3:p.Ala3866Val