Canonical Allele Identifier: CA270145

Gene: USH2A

Linked Data

• ClinVar Variation Id: 143175
• ClinVar RCV Id: RCV000132706 ; RCV000144482 ; RCV000675147 ; RCV003888572 ; RCV002514760 ; RCV003462051
• dbSNP Id: rs527236126
• gnomAD v4: 1-215650692-G-A
• MyVariant Identifiers: chr1:g.215824034G>A (hg19) ; chr1:g.215650692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215650692G>A , CM000663.2:g.215650692G>A	GRCh38
NC_000001.10:g.215824034G>A , CM000663.1:g.215824034G>A	GRCh37
NC_000001.9:g.213890657G>A	NCBI36
NG_009497.1:g.777705C>T
NG_009497.2:g.777757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14243C>T MANE Select	ENSP00000305941.3:p.Ser4748Phe
ENST00000674083.1:c.14243C>T	ENSP00000501296.1:p.Ser4748Phe
ENST00000307340.7:c.14243C>T	ENSP00000305941.3:p.Ser4748Phe
NM_206933.2:c.14243C>T	NP_996816.2:p.Ser4748Phe
NM_206933.3:c.14243C>T	NP_996816.2:p.Ser4748Phe
NM_206933.4:c.14243C>T MANE Select	NP_996816.3:p.Ser4748Phe