Canonical Allele Identifier: CA179593

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166533
• ClinVar RCV Id: RCV000152638 ; RCV000349749 ; RCV000383355 ; RCV001073743 ; RCV001520246
• dbSNP Id: rs201857884
• ExAC: 1:216595182 A / G
• gnomAD v2: 1-216595182-A-G
• gnomAD v3: 1-216421840-A-G
• gnomAD v4: 1-216421840-A-G
• MyVariant Identifiers: chr1:g.216595182A>G (hg19) ; chr1:g.216421840A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216421840A>G , CM000663.2:g.216421840A>G	GRCh38
NC_000001.10:g.216595182A>G , CM000663.1:g.216595182A>G	GRCh37
NC_000001.9:g.214661805A>G	NCBI36
NG_009497.1:g.6557T>C
NG_009497.2:g.6609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.485+12T>C MANE Select	ENSP00000305941.3:n.485+12T>C
ENST00000674083.1:c.485+12T>C	ENSP00000501296.1:n.485+12T>C
ENST00000307340.7:c.485+12T>C	ENSP00000305941.3:n.485+12T>C
ENST00000366942.3:c.485+12T>C	ENSP00000355909.3:n.485+12T>C
NM_007123.5:c.485+12T>C	NP_009054.5:n.485+12T>C
NM_206933.2:c.485+12T>C	NP_996816.2:n.485+12T>C
NM_206933.3:c.485+12T>C	NP_996816.2:n.485+12T>C
NM_007123.6:c.485+12T>C	NP_009054.6:n.485+12T>C
NM_206933.4:c.485+12T>C MANE Select	NP_996816.3:n.485+12T>C