Canonical Allele Identifier: CA37898322

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2796225
• ClinVar RCV Id: RCV003668073
• dbSNP Id: rs948960643
• gnomAD v2: 1-216497587-C-T
• MyVariant Identifiers: chr1:g.216497587C>T (hg19) ; chr1:g.216324245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324245C>T , CM000663.2:g.216324245C>T	GRCh38
NC_000001.10:g.216497587C>T , CM000663.1:g.216497587C>T	GRCh37
NC_000001.9:g.214564210C>T	NCBI36
NG_009497.1:g.104152G>A
NG_009497.2:g.104204G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1251G>A MANE Select	ENSP00000305941.3:p.Arg417=
ENST00000674083.1:c.1251G>A	ENSP00000501296.1:p.Arg417=
ENST00000307340.7:c.1251G>A	ENSP00000305941.3:p.Arg417=
ENST00000366942.3:c.1251G>A	ENSP00000355909.3:p.Arg417=
NM_007123.5:c.1251G>A	NP_009054.5:p.Arg417=
NM_206933.2:c.1251G>A	NP_996816.2:p.Arg417=
NM_206933.3:c.1251G>A	NP_996816.2:p.Arg417=
NM_007123.6:c.1251G>A	NP_009054.6:p.Arg417=
NM_206933.4:c.1251G>A MANE Select	NP_996816.3:p.Arg417=