Canonical Allele Identifier: CA10212118

Gene: CACNG2

Linked Data

• dbSNP Id: rs372295505
• ExAC: 22:36960653 G / A
• gnomAD v2: 22-36960653-G-A
• gnomAD v3: 22-36564606-G-A
• gnomAD v4: 22-36564606-G-A
• MyVariant Identifiers: chr22:g.36960653G>A (hg19) ; chr22:g.36564606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564606G>A , CM000684.2:g.36564606G>A	GRCh38
NC_000022.10:g.36960653G>A , CM000684.1:g.36960653G>A	GRCh37
NC_000022.9:g.35290599G>A	NCBI36
NG_031861.1:g.143038C>T
NG_031861.2:g.143253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.717C>T MANE Select	ENSP00000300105.6:p.Ser239=
ENST00000300105.6:c.717C>T	ENSP00000300105.6:p.Ser239=
NM_006078.3:c.717C>T	NP_006069.1:p.Ser239=
NM_006078.4:c.717C>T	NP_006069.1:p.Ser239=
XM_017028531.2:c.459C>T	XP_016884020.1:p.Ser153=
NM_001379051.1:c.648C>T	NP_001365980.1:p.Ser216=
NM_006078.5:c.717C>T MANE Select	NP_006069.1:p.Ser239=
NR_166440.1:n.2083C>T