Canonical Allele Identifier: CA411376045

Gene: CACNG2

Linked Data

• gnomAD v4: 22-36564593-T-A
• MyVariant Identifiers: chr22:g.36960640T>A (hg19) ; chr22:g.36564593T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564593T>A , CM000684.2:g.36564593T>A	GRCh38
NC_000022.10:g.36960640T>A , CM000684.1:g.36960640T>A	GRCh37
NC_000022.9:g.35290586T>A	NCBI36
NG_031861.1:g.143051A>T
NG_031861.2:g.143266A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.730A>T MANE Select	ENSP00000300105.6:p.Thr244Ser
ENST00000300105.6:c.730A>T	ENSP00000300105.6:p.Thr244Ser
NM_006078.3:c.730A>T	NP_006069.1:p.Thr244Ser
NM_006078.4:c.730A>T	NP_006069.1:p.Thr244Ser
XM_017028531.2:c.472A>T	XP_016884020.1:p.Thr158Ser
NM_001379051.1:c.661A>T	NP_001365980.1:p.Thr221Ser
NM_006078.5:c.730A>T MANE Select	NP_006069.1:p.Thr244Ser
NR_166440.1:n.2096A>T