Canonical Allele Identifier: CA411377048

Gene: CACNG2

Linked Data

• dbSNP Id: rs1304038904
• gnomAD v2: 22-36960750-T-G
• gnomAD v4: 22-36564703-T-G
• MyVariant Identifiers: chr22:g.36960750T>G (hg19) ; chr22:g.36564703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564703T>G , CM000684.2:g.36564703T>G	GRCh38
NC_000022.10:g.36960750T>G , CM000684.1:g.36960750T>G	GRCh37
NC_000022.9:g.35290696T>G	NCBI36
NG_031861.1:g.142941A>C
NG_031861.2:g.143156A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.620A>C MANE Select	ENSP00000300105.6:p.Gln207Pro
ENST00000300105.6:c.620A>C	ENSP00000300105.6:p.Gln207Pro
NM_006078.3:c.620A>C	NP_006069.1:p.Gln207Pro
NM_006078.4:c.620A>C	NP_006069.1:p.Gln207Pro
XM_017028531.2:c.362A>C	XP_016884020.1:p.Gln121Pro
NM_001379051.1:c.551A>C	NP_001365980.1:p.Gln184Pro
NM_006078.5:c.620A>C MANE Select	NP_006069.1:p.Gln207Pro
NR_166440.1:n.1986A>C