Canonical Allele Identifier: CA270143

Gene: USH2A

Linked Data

• ClinVar Variation Id: 143174
• ClinVar RCV Id: RCV000132705 ; RCV001075191 ; RCV002514759 ; RCV003453100 ; RCV004525879
• dbSNP Id: rs527236124
• gnomAD v4: 1-215671258-C-A
• MyVariant Identifiers: chr1:g.215844600C>A (hg19) ; chr1:g.215671258C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671258C>A , CM000663.2:g.215671258C>A	GRCh38
NC_000001.10:g.215844600C>A , CM000663.1:g.215844600C>A	GRCh37
NC_000001.9:g.213911223C>A	NCBI36
NG_009497.1:g.757139G>T
NG_009497.2:g.757191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13847G>T MANE Select	ENSP00000305941.3:p.Gly4616Val
ENST00000674083.1:c.13847G>T	ENSP00000501296.1:p.Gly4616Val
ENST00000307340.7:c.13847G>T	ENSP00000305941.3:p.Gly4616Val
NM_206933.2:c.13847G>T	NP_996816.2:p.Gly4616Val
NM_206933.3:c.13847G>T	NP_996816.2:p.Gly4616Val
NM_206933.4:c.13847G>T MANE Select	NP_996816.3:p.Gly4616Val