Canonical Allele Identifier: CA2092249

Gene: ABCA12

Linked Data

• dbSNP Id: rs745415552
• ExAC: 2:215884507 C / T
• gnomAD v2: 2-215884507-C-T
• gnomAD v4: 2-215019783-C-T
• COSMIC: COSM2717096 ; COSM4309633
• MyVariant Identifiers: chr2:g.215884507C>T (hg19) ; chr2:g.215019783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019783C>T , CM000664.2:g.215019783C>T	GRCh38
NC_000002.11:g.215884507C>T , CM000664.1:g.215884507C>T	GRCh37
NC_000002.10:g.215592752C>T	NCBI36
NG_007074.1:g.123645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1301G>A MANE Select	ENSP00000272895.7:p.Arg434Gln
ENST00000272895.11:c.1301G>A	ENSP00000272895.7:p.Arg434Gln
ENST00000389661.4:c.347G>A	ENSP00000374312.4:p.Arg116Gln
NM_015657.3:c.347G>A	NP_056472.2:p.Arg116Gln
NM_173076.2:c.1301G>A	NP_775099.2:p.Arg434Gln
NR_103740.1:n.1545G>A
XM_011510951.1:c.1301G>A	XP_011509253.1:p.Arg434Gln
XM_011510952.1:c.1301G>A	XP_011509254.1:p.Arg434Gln
XM_011510951.2:c.1301G>A	XP_011509253.1:p.Arg434Gln
NM_173076.3:c.1301G>A MANE Select	NP_775099.2:p.Arg434Gln
NR_103740.2:n.1743G>A
NM_015657.4:c.347G>A	NP_056472.2:p.Arg116Gln