Canonical Allele Identifier: CA344863980

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216348826T>C (hg19) ; chr1:g.216175484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175484T>C , CM000663.2:g.216175484T>C	GRCh38
NC_000001.10:g.216348826T>C , CM000663.1:g.216348826T>C	GRCh37
NC_000001.9:g.214415449T>C	NCBI36
NG_009497.1:g.252913A>G
NG_009497.2:g.252965A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4397-2A>G MANE Select	ENSP00000305941.3:n.4397-2A>G
ENST00000674083.1:c.4397-2A>G	ENSP00000501296.1:n.4397-2A>G
ENST00000307340.7:c.4397-2A>G	ENSP00000305941.3:n.4397-2A>G
ENST00000366942.3:c.4397-2A>G	ENSP00000355909.3:n.4397-2A>G
NM_007123.5:c.4397-2A>G	NP_009054.5:n.4397-2A>G
NM_206933.2:c.4397-2A>G	NP_996816.2:n.4397-2A>G
NM_206933.3:c.4397-2A>G	NP_996816.2:n.4397-2A>G
NM_007123.6:c.4397-2A>G	NP_009054.6:n.4397-2A>G
NM_206933.4:c.4397-2A>G MANE Select	NP_996816.3:n.4397-2A>G