Canonical Allele Identifier: CA344816376

Gene: USH2A

Linked Data

• COSMIC: COSM6296857 ; COSM6296858
• MyVariant Identifiers: chr1:g.215853623G>T (hg19) ; chr1:g.215680281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680281G>T , CM000663.2:g.215680281G>T	GRCh38
NC_000001.10:g.215853623G>T , CM000663.1:g.215853623G>T	GRCh37
NC_000001.9:g.213920246G>T	NCBI36
NG_009497.1:g.748116C>A
NG_009497.2:g.748168C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.12162C>A MANE Select	ENSP00000305941.3:p.Ser4054Arg
ENST00000674083.1:c.12162C>A	ENSP00000501296.1:p.Ser4054Arg
ENST00000307340.7:c.12162C>A	ENSP00000305941.3:p.Ser4054Arg
NM_206933.2:c.12162C>A	NP_996816.2:p.Ser4054Arg
NM_206933.3:c.12162C>A	NP_996816.2:p.Ser4054Arg
NM_206933.4:c.12162C>A MANE Select	NP_996816.3:p.Ser4054Arg