Canonical Allele Identifier: CA411378347

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960901T>A (hg19) ; chr22:g.36564854T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564854T>A , CM000684.2:g.36564854T>A	GRCh38
NC_000022.10:g.36960901T>A , CM000684.1:g.36960901T>A	GRCh37
NC_000022.9:g.35290847T>A	NCBI36
NG_031861.1:g.142790A>T
NG_031861.2:g.143005A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.469A>T MANE Select	ENSP00000300105.6:p.Ile157Leu
ENST00000300105.6:c.469A>T	ENSP00000300105.6:p.Ile157Leu
NM_006078.3:c.469A>T	NP_006069.1:p.Ile157Leu
NM_006078.4:c.469A>T	NP_006069.1:p.Ile157Leu
XM_017028531.2:c.211A>T	XP_016884020.1:p.Ile71Leu
NM_001379051.1:c.400A>T	NP_001365980.1:p.Ile134Leu
NM_006078.5:c.469A>T MANE Select	NP_006069.1:p.Ile157Leu
NR_166440.1:n.1835A>T