Canonical Allele Identifier: CA1012185389

Gene: USH2A

Linked Data

• dbSNP Id: rs2102636457
• gnomAD v3: 1-215640878-T-A
• gnomAD v4: 1-215640878-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640878T>A , CM000663.2:g.215640878T>A	GRCh38
NC_000001.10:g.215814220T>A , CM000663.1:g.215814220T>A	GRCh37
NC_000001.9:g.213880843T>A	NCBI36
NG_009497.1:g.787519A>T
NG_009497.2:g.787571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-144A>T MANE Select	ENSP00000305941.3:n.14792-144A>T
ENST00000674083.1:c.14792-144A>T	ENSP00000501296.1:n.14792-144A>T
ENST00000307340.7:c.14792-144A>T	ENSP00000305941.3:n.14792-144A>T
NM_206933.2:c.14792-144A>T	NP_996816.2:n.14792-144A>T
NM_206933.3:c.14792-144A>T	NP_996816.2:n.14792-144A>T
NM_206933.4:c.14792-144A>T MANE Select	NP_996816.3:n.14792-144A>T