Canonical Allele Identifier: CA143233

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48359
• ClinVar RCV Id: RCV000041680 ; RCV000955867 ; RCV001273695
• dbSNP Id: rs61276761
• ExAC: 1:215953288 G / T
• gnomAD v2: 1-215953288-G-T
• gnomAD v3: 1-215779946-G-T
• gnomAD v4: 1-215779946-G-T
• MyVariant Identifiers: chr1:g.215953288G>T (hg19) ; chr1:g.215779946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779946G>T , CM000663.2:g.215779946G>T	GRCh38
NC_000001.10:g.215953288G>T , CM000663.1:g.215953288G>T	GRCh37
NC_000001.9:g.214019911G>T	NCBI36
NG_009497.1:g.648451C>A
NG_009497.2:g.648503C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10836C>A MANE Select	ENSP00000305941.3:p.Val3612=
ENST00000674083.1:c.10836C>A	ENSP00000501296.1:p.Val3612=
ENST00000307340.7:c.10836C>A	ENSP00000305941.3:p.Val3612=
NM_206933.2:c.10836C>A	NP_996816.2:p.Val3612=
NM_206933.3:c.10836C>A	NP_996816.2:p.Val3612=
NM_206933.4:c.10836C>A MANE Select	NP_996816.3:p.Val3612=