Canonical Allele Identifier: CA639385278
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs1462954228
gnomAD v2: 22-37097478-G-A
gnomAD v3: 22-36701433-G-A
gnomAD v4: 22-36701433-G-A
COSMIC: COSN9165451
MyVariant Identifiers: chr22:g.37097478G>A (hg19) chr22:g.36701433G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36701433G>A , CM000684.2:g.36701433G>A GRCh38
NC_000022.10:g.37097478G>A , CM000684.1:g.37097478G>A GRCh37
NC_000022.9:g.35427424G>A NCBI36
NG_031861.1:g.6213C>T
NG_031861.2:g.6426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.211+933C>T MANE Select ENSP00000300105.6:n.211+933C>T
ENST00000300105.6:c.211+933C>T ENSP00000300105.6:n.211+933C>T
NM_006078.3:c.211+933C>T NP_006069.1:n.211+933C>T
NM_006078.4:c.211+933C>T NP_006069.1:n.211+933C>T
NM_001379051.1:c.142+933C>T NP_001365980.1:n.142+933C>T
NM_006078.5:c.211+933C>T MANE Select NP_006069.1:n.211+933C>T
NR_166440.1:n.1387+933C>T
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