Canonical Allele Identifier: CA514475249

Gene: CACNG2

Linked Data

• gnomAD v4: 22-36564777-G-A
• COSMIC: COSM1033871
• MyVariant Identifiers: chr22:g.36960824G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564777G>A , CM000684.2:g.36564777G>A	GRCh38
NC_000022.10:g.36960824G>A , CM000684.1:g.36960824G>A	GRCh37
NC_000022.9:g.35290770G>A	NCBI36
NG_031861.1:g.142867C>T
NG_031861.2:g.143082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.546C>T MANE Select	ENSP00000300105.6:p.Phe182=
ENST00000300105.6:c.546C>T	ENSP00000300105.6:p.Phe182=
NM_006078.3:c.546C>T	NP_006069.1:p.Phe182=
NM_006078.4:c.546C>T	NP_006069.1:p.Phe182=
XM_017028531.2:c.288C>T	XP_016884020.1:p.Phe96=
NM_001379051.1:c.477C>T	NP_001365980.1:p.Phe159=
NM_006078.5:c.546C>T MANE Select	NP_006069.1:p.Phe182=
NR_166440.1:n.1912C>T