Canonical Allele Identifier: CA411378556

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960927C>A (hg19) ; chr22:g.36564880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564880C>A , CM000684.2:g.36564880C>A	GRCh38
NC_000022.10:g.36960927C>A , CM000684.1:g.36960927C>A	GRCh37
NC_000022.9:g.35290873C>A	NCBI36
NG_031861.1:g.142764G>T
NG_031861.2:g.142979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.443G>T MANE Select	ENSP00000300105.6:p.Ser148Ile
ENST00000300105.6:c.443G>T	ENSP00000300105.6:p.Ser148Ile
NM_006078.3:c.443G>T	NP_006069.1:p.Ser148Ile
NM_006078.4:c.443G>T	NP_006069.1:p.Ser148Ile
XM_017028531.2:c.185G>T	XP_016884020.1:p.Ser62Ile
NM_001379051.1:c.374G>T	NP_001365980.1:p.Ser125Ile
NM_006078.5:c.443G>T MANE Select	NP_006069.1:p.Ser148Ile
NR_166440.1:n.1809G>T