Canonical Allele Identifier: CA252474
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2854
ClinVar RCV Id: RCV000002988
dbSNP Id: rs28940268
MyVariant Identifiers: chr2:g.215851287C>T (hg19) chr2:g.214986563C>T (hg38)
PubMed: PMID:8845852 PMID:12915478
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214986563C>T , CM000664.2:g.214986563C>T GRCh38
NC_000002.11:g.215851287C>T , CM000664.1:g.215851287C>T GRCh37
NC_000002.10:g.215559532C>T NCBI36
NG_007074.1:g.156865G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4142G>A MANE Select ENSP00000272895.7:p.Gly1381Glu
ENST00000272895.11:c.4142G>A ENSP00000272895.7:p.Gly1381Glu
ENST00000389661.4:c.3188G>A ENSP00000374312.4:p.Gly1063Glu
NM_015657.3:c.3188G>A NP_056472.2:p.Gly1063Glu
NM_173076.2:c.4142G>A NP_775099.2:p.Gly1381Glu
NR_103740.1:n.4442G>A
XM_011510951.1:c.4151G>A XP_011509253.1:p.Gly1384Glu
XM_011510952.1:c.4151G>A XP_011509254.1:p.Gly1384Glu
XM_011510951.2:c.4151G>A XP_011509253.1:p.Gly1384Glu
NM_173076.3:c.4142G>A MANE Select NP_775099.2:p.Gly1381Glu
NR_103740.2:n.4640G>A
NM_015657.4:c.3188G>A NP_056472.2:p.Gly1063Glu
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