Canonical Allele Identifier: CA344830194
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2044733
ClinVar RCV Id: RCV002903906
COSMIC: COSM903902 COSM3483495
MyVariant Identifiers: chr1:g.216052118C>T (hg19) chr1:g.215878776C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215878776C>T , CM000663.2:g.215878776C>T GRCh38
NC_000001.10:g.216052118C>T , CM000663.1:g.216052118C>T GRCh37
NC_000001.9:g.214118741C>T NCBI36
NG_009497.1:g.549621G>A
NG_009497.2:g.549673G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.8546G>A MANE Select ENSP00000305941.3:p.Gly2849Glu
ENST00000674083.1:c.8546G>A ENSP00000501296.1:p.Gly2849Glu
ENST00000307340.7:c.8546G>A ENSP00000305941.3:p.Gly2849Glu
NM_206933.2:c.8546G>A NP_996816.2:p.Gly2849Glu
NM_206933.3:c.8546G>A NP_996816.2:p.Gly2849Glu
NM_206933.4:c.8546G>A MANE Select NP_996816.3:p.Gly2849Glu
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