Canonical Allele Identifier: CA427820219

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 2002108
• ClinVar RCV Id: RCV002820145
• MyVariant Identifiers: chr2:g.99013229T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396766T>C , CM000664.2:g.98396766T>C	GRCh38
NC_000002.11:g.99013229T>C , CM000664.1:g.99013229T>C	GRCh37
NC_000002.10:g.98379661T>C	NCBI36
NG_009097.1:g.55612T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1596T>C MANE Select	ENSP00000272602.2:p.Asp532=
ENST00000272602.6:c.1596T>C	ENSP00000272602.2:p.Asp532=
ENST00000393504.5:c.1596T>C	ENSP00000377140.1:p.Asp532=
ENST00000409937.1:c.1608T>C	ENSP00000386761.1:p.Asp536=
ENST00000436404.6:c.1542T>C	ENSP00000410070.2:p.Asp514=
NM_001079878.1:c.1542T>C	NP_001073347.1:p.Asp514=
NM_001298.2:c.1596T>C	NP_001289.1:p.Asp532=
XM_006712243.2:c.1707T>C	XP_006712306.1:p.Asp569=
XM_011510554.1:c.1761T>C	XP_011508856.1:p.Asp587=
XM_011510554.2:c.1761T>C	XP_011508856.1:p.Asp587=
NM_001079878.2:c.1542T>C	NP_001073347.1:p.Asp514=
NM_001298.3:c.1596T>C MANE Select	NP_001289.1:p.Asp532=