Canonical Allele Identifier: CA411376872

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960720T>A (hg19) ; chr22:g.36564673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564673T>A , CM000684.2:g.36564673T>A	GRCh38
NC_000022.10:g.36960720T>A , CM000684.1:g.36960720T>A	GRCh37
NC_000022.9:g.35290666T>A	NCBI36
NG_031861.1:g.142971A>T
NG_031861.2:g.143186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.650A>T MANE Select	ENSP00000300105.6:p.Tyr217Phe
ENST00000300105.6:c.650A>T	ENSP00000300105.6:p.Tyr217Phe
NM_006078.3:c.650A>T	NP_006069.1:p.Tyr217Phe
NM_006078.4:c.650A>T	NP_006069.1:p.Tyr217Phe
XM_017028531.2:c.392A>T	XP_016884020.1:p.Tyr131Phe
NM_001379051.1:c.581A>T	NP_001365980.1:p.Tyr194Phe
NM_006078.5:c.650A>T MANE Select	NP_006069.1:p.Tyr217Phe
NR_166440.1:n.2016A>T