Canonical Allele Identifier: CA411376670

Gene: CACNG2

Linked Data

• MyVariant Identifiers: chr22:g.36960694T>A (hg19) ; chr22:g.36564647T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564647T>A , CM000684.2:g.36564647T>A	GRCh38
NC_000022.10:g.36960694T>A , CM000684.1:g.36960694T>A	GRCh37
NC_000022.9:g.35290640T>A	NCBI36
NG_031861.1:g.142997A>T
NG_031861.2:g.143212A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.676A>T MANE Select	ENSP00000300105.6:p.Ile226Phe
ENST00000300105.6:c.676A>T	ENSP00000300105.6:p.Ile226Phe
NM_006078.3:c.676A>T	NP_006069.1:p.Ile226Phe
NM_006078.4:c.676A>T	NP_006069.1:p.Ile226Phe
XM_017028531.2:c.418A>T	XP_016884020.1:p.Ile140Phe
NM_001379051.1:c.607A>T	NP_001365980.1:p.Ile203Phe
NM_006078.5:c.676A>T MANE Select	NP_006069.1:p.Ile226Phe
NR_166440.1:n.2042A>T