Canonical Allele Identifier: CA180690

Gene: USH2A

Linked Data

• ClinVar Variation Id: 177746
• ClinVar RCV Id: RCV000154359 ; RCV000724181 ; RCV001272929
• dbSNP Id: rs56136489
• ExAC: 1:215820902 G / A
• gnomAD v2: 1-215820902-G-A
• gnomAD v3: 1-215647560-G-A
• gnomAD v4: 1-215647560-G-A
• MyVariant Identifiers: chr1:g.215820902G>A (hg19) ; chr1:g.215647560G>A (hg38)
• PubMed: PMID:20507924

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215647560G>A , CM000663.2:g.215647560G>A	GRCh38
NC_000001.10:g.215820902G>A , CM000663.1:g.215820902G>A	GRCh37
NC_000001.9:g.213887525G>A	NCBI36
NG_009497.1:g.780837C>T
NG_009497.2:g.780889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14753C>T MANE Select	ENSP00000305941.3:p.Thr4918Met
ENST00000674083.1:c.14753C>T	ENSP00000501296.1:p.Thr4918Met
ENST00000307340.7:c.14753C>T	ENSP00000305941.3:p.Thr4918Met
NM_206933.2:c.14753C>T	NP_996816.2:p.Thr4918Met
NM_206933.3:c.14753C>T	NP_996816.2:p.Thr4918Met
NM_206933.4:c.14753C>T MANE Select	NP_996816.3:p.Thr4918Met