Canonical Allele Identifier: CA423313023

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2984719
• ClinVar RCV Id: RCV003845862
• MyVariant Identifiers: chr1:g.215953348G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780006G>A , CM000663.2:g.215780006G>A	GRCh38
NC_000001.10:g.215953348G>A , CM000663.1:g.215953348G>A	GRCh37
NC_000001.9:g.214019971G>A	NCBI36
NG_009497.1:g.648391C>T
NG_009497.2:g.648443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10776C>T MANE Select	ENSP00000305941.3:p.Ser3592=
ENST00000674083.1:c.10776C>T	ENSP00000501296.1:p.Ser3592=
ENST00000307340.7:c.10776C>T	ENSP00000305941.3:p.Ser3592=
NM_206933.2:c.10776C>T	NP_996816.2:p.Ser3592=
NM_206933.3:c.10776C>T	NP_996816.2:p.Ser3592=
NM_206933.4:c.10776C>T MANE Select	NP_996816.3:p.Ser3592=