Canonical Allele Identifier: CA411376049

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960642G>A (hg19) ; chr22:g.36564595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564595G>A , CM000684.2:g.36564595G>A	GRCh38
NC_000022.10:g.36960642G>A , CM000684.1:g.36960642G>A	GRCh37
NC_000022.9:g.35290588G>A	NCBI36
NG_031861.1:g.143049C>T
NG_031861.2:g.143264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.728C>T MANE Select	ENSP00000300105.6:p.Ser243Phe
ENST00000300105.6:c.728C>T	ENSP00000300105.6:p.Ser243Phe
NM_006078.3:c.728C>T	NP_006069.1:p.Ser243Phe
NM_006078.4:c.728C>T	NP_006069.1:p.Ser243Phe
XM_017028531.2:c.470C>T	XP_016884020.1:p.Ser157Phe
NM_001379051.1:c.659C>T	NP_001365980.1:p.Ser220Phe
NM_006078.5:c.728C>T MANE Select	NP_006069.1:p.Ser243Phe
NR_166440.1:n.2094C>T