Canonical Allele Identifier: CA344827945

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215813987G>T (hg19) ; chr1:g.215640645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640645G>T , CM000663.2:g.215640645G>T	GRCh38
NC_000001.10:g.215813987G>T , CM000663.1:g.215813987G>T	GRCh37
NC_000001.9:g.213880610G>T	NCBI36
NG_009497.1:g.787752C>A
NG_009497.2:g.787804C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14881C>A MANE Select	ENSP00000305941.3:p.Leu4961Met
ENST00000674083.1:c.14881C>A	ENSP00000501296.1:p.Leu4961Met
ENST00000307340.7:c.14881C>A	ENSP00000305941.3:p.Leu4961Met
NM_206933.2:c.14881C>A	NP_996816.2:p.Leu4961Met
NM_206933.3:c.14881C>A	NP_996816.2:p.Leu4961Met
NM_206933.4:c.14881C>A MANE Select	NP_996816.3:p.Leu4961Met