Canonical Allele Identifier: CA273630

Gene: USH2A

Linked Data

• ClinVar Variation Id: 179439
• ClinVar RCV Id: RCV000156228 ; RCV001826849 ; RCV002515013 ; RCV003453191
• dbSNP Id: rs727504867
• gnomAD v4: 1-215650687-G-A
• MyVariant Identifiers: chr1:g.215824029G>A (hg19) ; chr1:g.215650687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215650687G>A , CM000663.2:g.215650687G>A	GRCh38
NC_000001.10:g.215824029G>A , CM000663.1:g.215824029G>A	GRCh37
NC_000001.9:g.213890652G>A	NCBI36
NG_009497.1:g.777710C>T
NG_009497.2:g.777762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14248C>T MANE Select	ENSP00000305941.3:p.Gln4750Ter
ENST00000674083.1:c.14248C>T	ENSP00000501296.1:p.Gln4750Ter
ENST00000307340.7:c.14248C>T	ENSP00000305941.3:p.Gln4750Ter
NM_206933.2:c.14248C>T	NP_996816.2:p.Gln4750Ter
NM_206933.3:c.14248C>T	NP_996816.2:p.Gln4750Ter
NM_206933.4:c.14248C>T MANE Select	NP_996816.3:p.Gln4750Ter