Canonical Allele Identifier: CA423313009

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1564318
• ClinVar RCV Id: RCV002212531
• dbSNP Id: rs2102760701
• MyVariant Identifiers: chr1:g.215953330G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779988G>T , CM000663.2:g.215779988G>T	GRCh38
NC_000001.10:g.215953330G>T , CM000663.1:g.215953330G>T	GRCh37
NC_000001.9:g.214019953G>T	NCBI36
NG_009497.1:g.648409C>A
NG_009497.2:g.648461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10794C>A MANE Select	ENSP00000305941.3:p.Ile3598=
ENST00000674083.1:c.10794C>A	ENSP00000501296.1:p.Ile3598=
ENST00000307340.7:c.10794C>A	ENSP00000305941.3:p.Ile3598=
NM_206933.2:c.10794C>A	NP_996816.2:p.Ile3598=
NM_206933.3:c.10794C>A	NP_996816.2:p.Ile3598=
NM_206933.4:c.10794C>A MANE Select	NP_996816.3:p.Ile3598=