Canonical Allele Identifier: CA411376149

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960652T>A (hg19) ; chr22:g.36564605T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564605T>A , CM000684.2:g.36564605T>A	GRCh38
NC_000022.10:g.36960652T>A , CM000684.1:g.36960652T>A	GRCh37
NC_000022.9:g.35290598T>A	NCBI36
NG_031861.1:g.143039A>T
NG_031861.2:g.143254A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.718A>T MANE Select	ENSP00000300105.6:p.Ser240Cys
ENST00000300105.6:c.718A>T	ENSP00000300105.6:p.Ser240Cys
NM_006078.3:c.718A>T	NP_006069.1:p.Ser240Cys
NM_006078.4:c.718A>T	NP_006069.1:p.Ser240Cys
XM_017028531.2:c.460A>T	XP_016884020.1:p.Ser154Cys
NM_001379051.1:c.649A>T	NP_001365980.1:p.Ser217Cys
NM_006078.5:c.718A>T MANE Select	NP_006069.1:p.Ser240Cys
NR_166440.1:n.2084A>T