Canonical Allele Identifier: CA185252

Gene: USH2A

Linked Data

• ClinVar Variation Id: 179844
• ClinVar RCV Id: RCV000156643 ; RCV000666853 ; RCV002516342
• dbSNP Id: rs727505167
• ExAC: 1:216498635 G / A
• gnomAD v2: 1-216498635-G-A
• gnomAD v3: 1-216325293-G-A
• gnomAD v4: 1-216325293-G-A
• MyVariant Identifiers: chr1:g.216498635G>A (hg19) ; chr1:g.216325293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325293G>A , CM000663.2:g.216325293G>A	GRCh38
NC_000001.10:g.216498635G>A , CM000663.1:g.216498635G>A	GRCh37
NC_000001.9:g.214565258G>A	NCBI36
NG_009497.1:g.103104C>T
NG_009497.2:g.103156C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1143+12C>T MANE Select	ENSP00000305941.3:n.1143+12C>T
ENST00000674083.1:c.1143+12C>T	ENSP00000501296.1:n.1143+12C>T
ENST00000307340.7:c.1143+12C>T	ENSP00000305941.3:n.1143+12C>T
ENST00000366942.3:c.1143+12C>T	ENSP00000355909.3:n.1143+12C>T
NM_007123.5:c.1143+12C>T	NP_009054.5:n.1143+12C>T
NM_206933.2:c.1143+12C>T	NP_996816.2:n.1143+12C>T
NM_206933.3:c.1143+12C>T	NP_996816.2:n.1143+12C>T
NM_007123.6:c.1143+12C>T	NP_009054.6:n.1143+12C>T
NM_206933.4:c.1143+12C>T MANE Select	NP_996816.3:n.1143+12C>T