Canonical Allele Identifier: CA143425

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48478
• ClinVar RCV Id: RCV000041801 ; RCV000087009 ; RCV001099036 ; RCV001100843 ; RCV002490582 ; RCV003887904
• dbSNP Id: rs1805048
• ExAC: 1:216462662 T / A
• gnomAD v2: 1-216462662-T-A
• gnomAD v3: 1-216289320-T-A
• gnomAD v4: 1-216289320-T-A
• MyVariant Identifiers: chr1:g.216462662T>A (hg19) ; chr1:g.216289320T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216289320T>A , CM000663.2:g.216289320T>A	GRCh38
NC_000001.10:g.216462662T>A , CM000663.1:g.216462662T>A	GRCh37
NC_000001.9:g.214529285T>A	NCBI36
NG_009497.1:g.139077A>T
NG_009497.2:g.139129A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1931A>T MANE Select	ENSP00000305941.3:p.Asp644Val
ENST00000674083.1:c.1931A>T	ENSP00000501296.1:p.Asp644Val
ENST00000307340.7:c.1931A>T	ENSP00000305941.3:p.Asp644Val
ENST00000366942.3:c.1931A>T	ENSP00000355909.3:p.Asp644Val
NM_007123.5:c.1931A>T	NP_009054.5:p.Asp644Val
NM_206933.2:c.1931A>T	NP_996816.2:p.Asp644Val
NM_206933.3:c.1931A>T	NP_996816.2:p.Asp644Val
NM_007123.6:c.1931A>T	NP_009054.6:p.Asp644Val
NM_206933.4:c.1931A>T MANE Select	NP_996816.3:p.Asp644Val