Canonical Allele Identifier: CA411377542
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564769A>C , CM000684.2:g.36564769A>C GRCh38
NC_000022.10:g.36960816A>C , CM000684.1:g.36960816A>C GRCh37
NC_000022.9:g.35290762A>C NCBI36
NG_031861.1:g.142875T>G
NG_031861.2:g.143090T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.554T>G MANE Select ENSP00000300105.6:p.Leu185Arg
ENST00000300105.6:c.554T>G ENSP00000300105.6:p.Leu185Arg
NM_006078.3:c.554T>G NP_006069.1:p.Leu185Arg
NM_006078.4:c.554T>G NP_006069.1:p.Leu185Arg
XM_017028531.2:c.296T>G XP_016884020.1:p.Leu99Arg
NM_001379051.1:c.485T>G NP_001365980.1:p.Leu162Arg
NM_006078.5:c.554T>G MANE Select NP_006069.1:p.Leu185Arg
NR_166440.1:n.1920T>G