Canonical Allele Identifier: CA514475115
Gene: CACNG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.36960680G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564633G>A , CM000684.2:g.36564633G>A GRCh38
NC_000022.10:g.36960680G>A , CM000684.1:g.36960680G>A GRCh37
NC_000022.9:g.35290626G>A NCBI36
NG_031861.1:g.143011C>T
NG_031861.2:g.143226C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.690C>T MANE Select ENSP00000300105.6:p.Arg230=
ENST00000300105.6:c.690C>T ENSP00000300105.6:p.Arg230=
NM_006078.3:c.690C>T NP_006069.1:p.Arg230=
NM_006078.4:c.690C>T NP_006069.1:p.Arg230=
XM_017028531.2:c.432C>T XP_016884020.1:p.Arg144=
NM_001379051.1:c.621C>T NP_001365980.1:p.Arg207=
NM_006078.5:c.690C>T MANE Select NP_006069.1:p.Arg230=
NR_166440.1:n.2056C>T