Canonical Allele Identifier: CA411376646

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960691G>A (hg19) ; chr22:g.36564644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564644G>A , CM000684.2:g.36564644G>A	GRCh38
NC_000022.10:g.36960691G>A , CM000684.1:g.36960691G>A	GRCh37
NC_000022.9:g.35290637G>A	NCBI36
NG_031861.1:g.143000C>T
NG_031861.2:g.143215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.679C>T MANE Select	ENSP00000300105.6:p.Pro227Ser
ENST00000300105.6:c.679C>T	ENSP00000300105.6:p.Pro227Ser
NM_006078.3:c.679C>T	NP_006069.1:p.Pro227Ser
NM_006078.4:c.679C>T	NP_006069.1:p.Pro227Ser
XM_017028531.2:c.421C>T	XP_016884020.1:p.Pro141Ser
NM_001379051.1:c.610C>T	NP_001365980.1:p.Pro204Ser
NM_006078.5:c.679C>T MANE Select	NP_006069.1:p.Pro227Ser
NR_166440.1:n.2045C>T