Canonical Allele Identifier: CA179546

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166481
• ClinVar RCV Id: RCV000152602 ; RCV000504981 ; RCV000669599 ; RCV001240603 ; RCV001826815
• dbSNP Id: rs140487302
• ExAC: 1:216172296 G / A
• gnomAD v2: 1-216172296-G-A
• gnomAD v3: 1-215998954-G-A
• gnomAD v4: 1-215998954-G-A
• COSMIC: COSM903922
• MyVariant Identifiers: chr1:g.216172296G>A (hg19) ; chr1:g.215998954G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215998954G>A , CM000663.2:g.215998954G>A	GRCh38
NC_000001.10:g.216172296G>A , CM000663.1:g.216172296G>A	GRCh37
NC_000001.9:g.214238919G>A	NCBI36
NG_009497.1:g.429443C>T
NG_009497.2:g.429495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6590C>T MANE Select	ENSP00000305941.3:p.Thr2197Ile
ENST00000674083.1:c.6590C>T	ENSP00000501296.1:p.Thr2197Ile
ENST00000307340.7:c.6590C>T	ENSP00000305941.3:p.Thr2197Ile
NM_206933.2:c.6590C>T	NP_996816.2:p.Thr2197Ile
NM_206933.3:c.6590C>T	NP_996816.2:p.Thr2197Ile
NM_206933.4:c.6590C>T MANE Select	NP_996816.3:p.Thr2197Ile