Canonical Allele Identifier: CA344850966
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2966933
ClinVar RCV Id: RCV003829067
dbSNP Id: rs1064797131

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675492C>G , CM000663.2:g.215675492C>G GRCh38
NC_000001.10:g.215848834C>G , CM000663.1:g.215848834C>G GRCh37
NC_000001.9:g.213915457C>G NCBI36
NG_009497.1:g.752905G>C
NG_009497.2:g.752957G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12419G>C MANE Select ENSP00000305941.3:p.Cys4140Ser
ENST00000674083.1:c.12419G>C ENSP00000501296.1:p.Cys4140Ser
ENST00000307340.7:c.12419G>C ENSP00000305941.3:p.Cys4140Ser
NM_206933.2:c.12419G>C NP_996816.2:p.Cys4140Ser
NM_206933.3:c.12419G>C NP_996816.2:p.Cys4140Ser
NM_206933.4:c.12419G>C MANE Select NP_996816.3:p.Cys4140Ser