Canonical Allele Identifier: CA423319851

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216243606T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070264T>C , CM000663.2:g.216070264T>C	GRCh38
NC_000001.10:g.216243606T>C , CM000663.1:g.216243606T>C	GRCh37
NC_000001.9:g.214310229T>C	NCBI36
NG_009497.1:g.358133A>G
NG_009497.2:g.358185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5886A>G MANE Select	ENSP00000305941.3:p.Arg1962=
ENST00000674083.1:c.5886A>G	ENSP00000501296.1:p.Arg1962=
ENST00000307340.7:c.5886A>G	ENSP00000305941.3:p.Arg1962=
NM_206933.2:c.5886A>G	NP_996816.2:p.Arg1962=
NM_206933.3:c.5886A>G	NP_996816.2:p.Arg1962=
NM_206933.4:c.5886A>G MANE Select	NP_996816.3:p.Arg1962=