Canonical Allele Identifier: CA423306884

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1123655
• ClinVar RCV Id: RCV001454791
• dbSNP Id: rs1656647981
• MyVariant Identifiers: chr1:g.215814003G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640661G>A , CM000663.2:g.215640661G>A	GRCh38
NC_000001.10:g.215814003G>A , CM000663.1:g.215814003G>A	GRCh37
NC_000001.9:g.213880626G>A	NCBI36
NG_009497.1:g.787736C>T
NG_009497.2:g.787788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14865C>T MANE Select	ENSP00000305941.3:p.Phe4955=
ENST00000674083.1:c.14865C>T	ENSP00000501296.1:p.Phe4955=
ENST00000307340.7:c.14865C>T	ENSP00000305941.3:p.Phe4955=
NM_206933.2:c.14865C>T	NP_996816.2:p.Phe4955=
NM_206933.3:c.14865C>T	NP_996816.2:p.Phe4955=
NM_206933.4:c.14865C>T MANE Select	NP_996816.3:p.Phe4955=