Canonical Allele Identifier: CA639392935

Gene: CACNG2

Linked Data

• dbSNP Id: rs1289469730
• gnomAD v2: 22-36960948-G-GT
• gnomAD v3: 22-36564901-G-GT
• gnomAD v4: 22-36564901-G-GT
• MyVariant Identifiers: chr22:g.36960948_36960949insT (hg19) ; chr22:g.36564901_36564902insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564902dup , CM000684.2:g.36564902dup	GRCh38
NC_000022.10:g.36960949dup , CM000684.1:g.36960949dup	GRCh37
NC_000022.9:g.35290895dup	NCBI36
NG_031861.1:g.142742dup
NG_031861.2:g.142957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.437-16dup MANE Select	ENSP00000300105.6:n.437-16dup
ENST00000300105.6:c.437-16dup	ENSP00000300105.6:n.437-16dup
NM_006078.3:c.437-16dup	NP_006069.1:n.437-16dup
NM_006078.4:c.437-16dup	NP_006069.1:n.437-16dup
XM_017028531.2:c.179-16dup	XP_016884020.1:n.179-16dup
NM_001379051.1:c.368-16dup	NP_001365980.1:n.368-16dup
NM_006078.5:c.437-16dup MANE Select	NP_006069.1:n.437-16dup
NR_166440.1:n.1803-16dup