Canonical Allele Identifier: CA411378568
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564883A>C , CM000684.2:g.36564883A>C GRCh38
NC_000022.10:g.36960930A>C , CM000684.1:g.36960930A>C GRCh37
NC_000022.9:g.35290876A>C NCBI36
NG_031861.1:g.142761T>G
NG_031861.2:g.142976T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.440T>G MANE Select ENSP00000300105.6:p.Leu147Arg
ENST00000300105.6:c.440T>G ENSP00000300105.6:p.Leu147Arg
NM_006078.3:c.440T>G NP_006069.1:p.Leu147Arg
NM_006078.4:c.440T>G NP_006069.1:p.Leu147Arg
XM_017028531.2:c.182T>G XP_016884020.1:p.Leu61Arg
NM_001379051.1:c.371T>G NP_001365980.1:p.Leu124Arg
NM_006078.5:c.440T>G MANE Select NP_006069.1:p.Leu147Arg
NR_166440.1:n.1806T>G