Canonical Allele Identifier: CA224398

Gene: USH2A

Linked Data

• ClinVar Variation Id: 96666
• ClinVar RCV Id: RCV000675016 ; RCV000760348 ; RCV001002688 ; RCV001075205 ; RCV001376458
• dbSNP Id: rs398124619
• gnomAD v2: 1-216144062-C-A
• gnomAD v3: 1-215970720-C-A
• gnomAD v4: 1-215970720-C-A
• MyVariant Identifiers: chr1:g.216144062C>A (hg19) ; chr1:g.215970720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215970720C>A , CM000663.2:g.215970720C>A	GRCh38
NC_000001.10:g.216144062C>A , CM000663.1:g.216144062C>A	GRCh37
NC_000001.9:g.214210685C>A	NCBI36
NG_009497.1:g.457677G>T
NG_009497.2:g.457729G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6862G>T MANE Select	ENSP00000305941.3:p.Glu2288Ter
ENST00000674083.1:c.6862G>T	ENSP00000501296.1:p.Glu2288Ter
ENST00000307340.7:c.6862G>T	ENSP00000305941.3:p.Glu2288Ter
NM_206933.2:c.6862G>T	NP_996816.2:p.Glu2288Ter
NM_206933.3:c.6862G>T	NP_996816.2:p.Glu2288Ter
NM_206933.4:c.6862G>T MANE Select	NP_996816.3:p.Glu2288Ter