Canonical Allele Identifier: CA323997871

Gene: CACNG2

Linked Data

• dbSNP Id: rs756141007
• gnomAD v2: 22-36960919-T-C
• gnomAD v4: 22-36564872-T-C
• MyVariant Identifiers: chr22:g.36960919T>C (hg19) ; chr22:g.36564872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564872T>C , CM000684.2:g.36564872T>C	GRCh38
NC_000022.10:g.36960919T>C , CM000684.1:g.36960919T>C	GRCh37
NC_000022.9:g.35290865T>C	NCBI36
NG_031861.1:g.142772A>G
NG_031861.2:g.142987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.451A>G MANE Select	ENSP00000300105.6:p.Ile151Val
ENST00000300105.6:c.451A>G	ENSP00000300105.6:p.Ile151Val
NM_006078.3:c.451A>G	NP_006069.1:p.Ile151Val
NM_006078.4:c.451A>G	NP_006069.1:p.Ile151Val
XM_017028531.2:c.193A>G	XP_016884020.1:p.Ile65Val
NM_001379051.1:c.382A>G	NP_001365980.1:p.Ile128Val
NM_006078.5:c.451A>G MANE Select	NP_006069.1:p.Ile151Val
NR_166440.1:n.1817A>G