Canonical Allele Identifier: CA411378120
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs773842942
MyVariant Identifiers: chr22:g.36960877A>G (hg19) chr22:g.36564830A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564830A>G , CM000684.2:g.36564830A>G GRCh38
NC_000022.10:g.36960877A>G , CM000684.1:g.36960877A>G GRCh37
NC_000022.9:g.35290823A>G NCBI36
NG_031861.1:g.142814T>C
NG_031861.2:g.143029T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.493T>C MANE Select ENSP00000300105.6:p.Ser165Pro
ENST00000300105.6:c.493T>C ENSP00000300105.6:p.Ser165Pro
NM_006078.3:c.493T>C NP_006069.1:p.Ser165Pro
NM_006078.4:c.493T>C NP_006069.1:p.Ser165Pro
XM_017028531.2:c.235T>C XP_016884020.1:p.Ser79Pro
NM_001379051.1:c.424T>C NP_001365980.1:p.Ser142Pro
NM_006078.5:c.493T>C MANE Select NP_006069.1:p.Ser165Pro
NR_166440.1:n.1859T>C
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