Canonical Allele Identifier: CA411376511
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs1442948512
MyVariant Identifiers: chr22:g.36960682G>T (hg19) chr22:g.36564635G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564635G>T , CM000684.2:g.36564635G>T GRCh38
NC_000022.10:g.36960682G>T , CM000684.1:g.36960682G>T GRCh37
NC_000022.9:g.35290628G>T NCBI36
NG_031861.1:g.143009C>A
NG_031861.2:g.143224C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.688C>A MANE Select ENSP00000300105.6:p.Arg230Ser
ENST00000300105.6:c.688C>A ENSP00000300105.6:p.Arg230Ser
NM_006078.3:c.688C>A NP_006069.1:p.Arg230Ser
NM_006078.4:c.688C>A NP_006069.1:p.Arg230Ser
XM_017028531.2:c.430C>A XP_016884020.1:p.Arg144Ser
NM_001379051.1:c.619C>A NP_001365980.1:p.Arg207Ser
NM_006078.5:c.688C>A MANE Select NP_006069.1:p.Arg230Ser
NR_166440.1:n.2054C>A
Search 100 bp 5'
Search 100 bp 3'