Canonical Allele Identifier: CA37357977

Gene: USH2A

Linked Data

• dbSNP Id: rs932668811
• gnomAD v4: 1-215680151-T-A
• MyVariant Identifiers: chr1:g.215853493T>A (hg19) ; chr1:g.215680151T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680151T>A , CM000663.2:g.215680151T>A	GRCh38
NC_000001.10:g.215853493T>A , CM000663.1:g.215853493T>A	GRCh37
NC_000001.9:g.213920116T>A	NCBI36
NG_009497.1:g.748246A>T
NG_009497.2:g.748298A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12292A>T MANE Select	ENSP00000305941.3:p.Lys4098Ter
ENST00000674083.1:c.12292A>T	ENSP00000501296.1:p.Lys4098Ter
ENST00000307340.7:c.12292A>T	ENSP00000305941.3:p.Lys4098Ter
NM_206933.2:c.12292A>T	NP_996816.2:p.Lys4098Ter
NM_206933.3:c.12292A>T	NP_996816.2:p.Lys4098Ter
NM_206933.4:c.12292A>T MANE Select	NP_996816.3:p.Lys4098Ter