Canonical Allele Identifier: CA411376773
Gene: CACNG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.36960703T>G (hg19) chr22:g.36564656T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564656T>G , CM000684.2:g.36564656T>G GRCh38
NC_000022.10:g.36960703T>G , CM000684.1:g.36960703T>G GRCh37
NC_000022.9:g.35290649T>G NCBI36
NG_031861.1:g.142988A>C
NG_031861.2:g.143203A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.667A>C MANE Select ENSP00000300105.6:p.Ile223Leu
ENST00000300105.6:c.667A>C ENSP00000300105.6:p.Ile223Leu
NM_006078.3:c.667A>C NP_006069.1:p.Ile223Leu
NM_006078.4:c.667A>C NP_006069.1:p.Ile223Leu
XM_017028531.2:c.409A>C XP_016884020.1:p.Ile137Leu
NM_001379051.1:c.598A>C NP_001365980.1:p.Ile200Leu
NM_006078.5:c.667A>C MANE Select NP_006069.1:p.Ile223Leu
NR_166440.1:n.2033A>C
Search 100 bp 5'
Search 100 bp 3'