Canonical Allele Identifier: CA350446059

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818626A>C (hg19) ; chr2:g.214953902A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953902A>C , CM000664.2:g.214953902A>C	GRCh38
NC_000002.11:g.215818626A>C , CM000664.1:g.215818626A>C	GRCh37
NC_000002.10:g.215526871A>C	NCBI36
NG_007074.1:g.189526T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6599T>G (ABCA12) MANE Select	ENSP00000272895.7:p.Phe2200Cys
ENST00000272895.11:c.6599T>G (ABCA12)	ENSP00000272895.7:p.Phe2200Cys
ENST00000389661.4:c.5645T>G (ABCA12)	ENSP00000374312.4:p.Phe1882Cys
NM_015657.3:c.5645T>G (ABCA12)	NP_056472.2:p.Phe1882Cys
NM_173076.2:c.6599T>G (ABCA12)	NP_775099.2:p.Phe2200Cys
NR_103740.1:n.6899T>G (ABCA12)
NR_110292.1:n.444+5955A>C (SNHG31)
XM_011510951.1:c.6608T>G (ABCA12)	XP_011509253.1:p.Phe2203Cys
XM_011510951.2:c.6608T>G (ABCA12)	XP_011509253.1:p.Phe2203Cys
NM_173076.3:c.6599T>G (ABCA12) MANE Select	NP_775099.2:p.Phe2200Cys
NR_103740.2:n.7097T>G (ABCA12)
NM_015657.4:c.5645T>G (ABCA12)	NP_056472.2:p.Phe1882Cys