Canonical Allele Identifier: CA423397873

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1144849
• ClinVar RCV Id: RCV001483501
• dbSNP Id: rs2037680772
• gnomAD v4: 1-216324242-A-G
• MyVariant Identifiers: chr1:g.216497584A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324242A>G , CM000663.2:g.216324242A>G	GRCh38
NC_000001.10:g.216497584A>G , CM000663.1:g.216497584A>G	GRCh37
NC_000001.9:g.214564207A>G	NCBI36
NG_009497.1:g.104155T>C
NG_009497.2:g.104207T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1254T>C MANE Select	ENSP00000305941.3:p.Asn418=
ENST00000674083.1:c.1254T>C	ENSP00000501296.1:p.Asn418=
ENST00000307340.7:c.1254T>C	ENSP00000305941.3:p.Asn418=
ENST00000366942.3:c.1254T>C	ENSP00000355909.3:p.Asn418=
NM_007123.5:c.1254T>C	NP_009054.5:p.Asn418=
NM_206933.2:c.1254T>C	NP_996816.2:p.Asn418=
NM_206933.3:c.1254T>C	NP_996816.2:p.Asn418=
NM_007123.6:c.1254T>C	NP_009054.6:p.Asn418=
NM_206933.4:c.1254T>C MANE Select	NP_996816.3:p.Asn418=