Canonical Allele Identifier: CA344911639

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1382673
• ClinVar RCV Id: RCV001890464
• dbSNP Id: rs2102654132
• gnomAD v4: 1-216324244-T-A
• MyVariant Identifiers: chr1:g.216497586T>A (hg19) ; chr1:g.216324244T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324244T>A , CM000663.2:g.216324244T>A	GRCh38
NC_000001.10:g.216497586T>A , CM000663.1:g.216497586T>A	GRCh37
NC_000001.9:g.214564209T>A	NCBI36
NG_009497.1:g.104153A>T
NG_009497.2:g.104205A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1252A>T MANE Select	ENSP00000305941.3:p.Asn418Tyr
ENST00000674083.1:c.1252A>T	ENSP00000501296.1:p.Asn418Tyr
ENST00000307340.7:c.1252A>T	ENSP00000305941.3:p.Asn418Tyr
ENST00000366942.3:c.1252A>T	ENSP00000355909.3:p.Asn418Tyr
NM_007123.5:c.1252A>T	NP_009054.5:p.Asn418Tyr
NM_206933.2:c.1252A>T	NP_996816.2:p.Asn418Tyr
NM_206933.3:c.1252A>T	NP_996816.2:p.Asn418Tyr
NM_007123.6:c.1252A>T	NP_009054.6:p.Asn418Tyr
NM_206933.4:c.1252A>T MANE Select	NP_996816.3:p.Asn418Tyr