Canonical Allele Identifier: CA431148845

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2826215
• ClinVar RCV Id: RCV003681274
• COSMIC: COSM2717001 ; COSM4309529
• MyVariant Identifiers: chr2:g.215845294C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980570C>T , CM000664.2:g.214980570C>T	GRCh38
NC_000002.11:g.215845294C>T , CM000664.1:g.215845294C>T	GRCh37
NC_000002.10:g.215553539C>T	NCBI36
NG_007074.1:g.162858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4653G>A MANE Select	ENSP00000272895.7:p.Glu1551=
ENST00000272895.11:c.4653G>A	ENSP00000272895.7:p.Glu1551=
ENST00000389661.4:c.3699G>A	ENSP00000374312.4:p.Glu1233=
NM_015657.3:c.3699G>A	NP_056472.2:p.Glu1233=
NM_173076.2:c.4653G>A	NP_775099.2:p.Glu1551=
NR_103740.1:n.4953G>A
XM_011510951.1:c.4662G>A	XP_011509253.1:p.Glu1554=
XM_011510952.1:c.4662G>A	XP_011509254.1:p.Glu1554=
XM_011510951.2:c.4662G>A	XP_011509253.1:p.Glu1554=
NM_173076.3:c.4653G>A MANE Select	NP_775099.2:p.Glu1551=
NR_103740.2:n.5151G>A
NM_015657.4:c.3699G>A	NP_056472.2:p.Glu1233=