Canonical Allele Identifier: CA344845387

Gene: USH2A

Linked Data

• COSMIC: COSM3785149 ; COSM3785150
• MyVariant Identifiers: chr1:g.215847851T>C (hg19) ; chr1:g.215674509T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674509T>C , CM000663.2:g.215674509T>C	GRCh38
NC_000001.10:g.215847851T>C , CM000663.1:g.215847851T>C	GRCh37
NC_000001.9:g.213914474T>C	NCBI36
NG_009497.1:g.753888A>G
NG_009497.2:g.753940A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13402A>G MANE Select	ENSP00000305941.3:p.Arg4468Gly
ENST00000674083.1:c.13402A>G	ENSP00000501296.1:p.Arg4468Gly
ENST00000307340.7:c.13402A>G	ENSP00000305941.3:p.Arg4468Gly
NM_206933.2:c.13402A>G	NP_996816.2:p.Arg4468Gly
NM_206933.3:c.13402A>G	NP_996816.2:p.Arg4468Gly
NM_206933.4:c.13402A>G MANE Select	NP_996816.3:p.Arg4468Gly