Canonical Allele Identifier: CA514475102

Gene: CACNG2

Linked Data

• gnomAD v4: 22-36564822-G-A
• COSMIC: COSM1033872
• MyVariant Identifiers: chr22:g.36960869G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564822G>A , CM000684.2:g.36564822G>A	GRCh38
NC_000022.10:g.36960869G>A , CM000684.1:g.36960869G>A	GRCh37
NC_000022.9:g.35290815G>A	NCBI36
NG_031861.1:g.142822C>T
NG_031861.2:g.143037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.501C>T MANE Select	ENSP00000300105.6:p.Ser167=
ENST00000300105.6:c.501C>T	ENSP00000300105.6:p.Ser167=
NM_006078.3:c.501C>T	NP_006069.1:p.Ser167=
NM_006078.4:c.501C>T	NP_006069.1:p.Ser167=
XM_017028531.2:c.243C>T	XP_016884020.1:p.Ser81=
NM_001379051.1:c.432C>T	NP_001365980.1:p.Ser144=
NM_006078.5:c.501C>T MANE Select	NP_006069.1:p.Ser167=
NR_166440.1:n.1867C>T