Canonical Allele Identifier: CA411377162

Gene: CACNG2

Linked Data

• dbSNP Id: rs752802266
• gnomAD v2: 22-36960763-C-A
• gnomAD v4: 22-36564716-C-A
• MyVariant Identifiers: chr22:g.36960763C>A (hg19) ; chr22:g.36564716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564716C>A , CM000684.2:g.36564716C>A	GRCh38
NC_000022.10:g.36960763C>A , CM000684.1:g.36960763C>A	GRCh37
NC_000022.9:g.35290709C>A	NCBI36
NG_031861.1:g.142928G>T
NG_031861.2:g.143143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.607G>T MANE Select	ENSP00000300105.6:p.Asp203Tyr
ENST00000300105.6:c.607G>T	ENSP00000300105.6:p.Asp203Tyr
NM_006078.3:c.607G>T	NP_006069.1:p.Asp203Tyr
NM_006078.4:c.607G>T	NP_006069.1:p.Asp203Tyr
XM_017028531.2:c.349G>T	XP_016884020.1:p.Asp117Tyr
NM_001379051.1:c.538G>T	NP_001365980.1:p.Asp180Tyr
NM_006078.5:c.607G>T MANE Select	NP_006069.1:p.Asp203Tyr
NR_166440.1:n.1973G>T