Canonical Allele Identifier: CA246349

Gene: USH2A

Linked Data

• ClinVar Variation Id: 197944
• ClinVar RCV Id: RCV000179116 ; RCV000825849 ; RCV001276949
• dbSNP Id: rs372015149
• ExAC: 1:215960058 G / A
• gnomAD v2: 1-215960058-G-A
• gnomAD v3: 1-215786716-G-A
• gnomAD v4: 1-215786716-G-A
• COSMIC: COSM1338826
• MyVariant Identifiers: chr1:g.215960058G>A (hg19) ; chr1:g.215786716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215786716G>A , CM000663.2:g.215786716G>A	GRCh38
NC_000001.10:g.215960058G>A , CM000663.1:g.215960058G>A	GRCh37
NC_000001.9:g.214026681G>A	NCBI36
NG_009497.1:g.641681C>T
NG_009497.2:g.641733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10341C>T MANE Select	ENSP00000305941.3:p.Ala3447=
ENST00000674083.1:c.10341C>T	ENSP00000501296.1:p.Ala3447=
ENST00000307340.7:c.10341C>T	ENSP00000305941.3:p.Ala3447=
NM_206933.2:c.10341C>T	NP_996816.2:p.Ala3447=
NM_206933.3:c.10341C>T	NP_996816.2:p.Ala3447=
NM_206933.4:c.10341C>T MANE Select	NP_996816.3:p.Ala3447=