Canonical Allele Identifier: CA344841245

Gene: USH2A

Linked Data

• COSMIC: COSM6385848 ; COSM6385849
• MyVariant Identifiers: chr1:g.215844516A>T (hg19) ; chr1:g.215671174A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671174A>T , CM000663.2:g.215671174A>T	GRCh38
NC_000001.10:g.215844516A>T , CM000663.1:g.215844516A>T	GRCh37
NC_000001.9:g.213911139A>T	NCBI36
NG_009497.1:g.757223T>A
NG_009497.2:g.757275T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13931T>A MANE Select	ENSP00000305941.3:p.Met4644Lys
ENST00000674083.1:c.13931T>A	ENSP00000501296.1:p.Met4644Lys
ENST00000307340.7:c.13931T>A	ENSP00000305941.3:p.Met4644Lys
NM_206933.2:c.13931T>A	NP_996816.2:p.Met4644Lys
NM_206933.3:c.13931T>A	NP_996816.2:p.Met4644Lys
NM_206933.4:c.13931T>A MANE Select	NP_996816.3:p.Met4644Lys