Canonical Allele Identifier: CA423426478

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1665284
• ClinVar RCV Id: RCV002203165
• dbSNP Id: rs2102661431
• MyVariant Identifiers: chr1:g.215844536A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671194A>G , CM000663.2:g.215671194A>G	GRCh38
NC_000001.10:g.215844536A>G , CM000663.1:g.215844536A>G	GRCh37
NC_000001.9:g.213911159A>G	NCBI36
NG_009497.1:g.757203T>C
NG_009497.2:g.757255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13911T>C MANE Select	ENSP00000305941.3:p.Pro4637=
ENST00000674083.1:c.13911T>C	ENSP00000501296.1:p.Pro4637=
ENST00000307340.7:c.13911T>C	ENSP00000305941.3:p.Pro4637=
NM_206933.2:c.13911T>C	NP_996816.2:p.Pro4637=
NM_206933.3:c.13911T>C	NP_996816.2:p.Pro4637=
NM_206933.4:c.13911T>C MANE Select	NP_996816.3:p.Pro4637=