Canonical Allele Identifier: CA143605

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48588
• ClinVar RCV Id: RCV000041914 ; RCV000672278 ; RCV002514163 ; RCV003450891 ; RCV003450892
• dbSNP Id: rs397518033
• gnomAD v2: 1-216062307-C-A
• gnomAD v4: 1-215888965-C-A
• MyVariant Identifiers: chr1:g.216062307C>A (hg19) ; chr1:g.215888965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215888965C>A , CM000663.2:g.215888965C>A	GRCh38
NC_000001.10:g.216062307C>A , CM000663.1:g.216062307C>A	GRCh37
NC_000001.9:g.214128930C>A	NCBI36
NG_009497.1:g.539432G>T
NG_009497.2:g.539484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7684G>T MANE Select	ENSP00000305941.3:p.Val2562Phe
ENST00000674083.1:c.7684G>T	ENSP00000501296.1:p.Val2562Phe
ENST00000307340.7:c.7684G>T	ENSP00000305941.3:p.Val2562Phe
NM_206933.2:c.7684G>T	NP_996816.2:p.Val2562Phe
NM_206933.3:c.7684G>T	NP_996816.2:p.Val2562Phe
NM_206933.4:c.7684G>T MANE Select	NP_996816.3:p.Val2562Phe