Canonical Allele Identifier: CA411375995

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960633G>A (hg19) ; chr22:g.36564586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564586G>A , CM000684.2:g.36564586G>A	GRCh38
NC_000022.10:g.36960633G>A , CM000684.1:g.36960633G>A	GRCh37
NC_000022.9:g.35290579G>A	NCBI36
NG_031861.1:g.143058C>T
NG_031861.2:g.143273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.737C>T MANE Select	ENSP00000300105.6:p.Pro246Leu
ENST00000300105.6:c.737C>T	ENSP00000300105.6:p.Pro246Leu
NM_006078.3:c.737C>T	NP_006069.1:p.Pro246Leu
NM_006078.4:c.737C>T	NP_006069.1:p.Pro246Leu
XM_017028531.2:c.479C>T	XP_016884020.1:p.Pro160Leu
NM_001379051.1:c.668C>T	NP_001365980.1:p.Pro223Leu
NM_006078.5:c.737C>T MANE Select	NP_006069.1:p.Pro246Leu
NR_166440.1:n.2103C>T