Canonical Allele Identifier: CA431319828

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215812227A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947503A>G , CM000664.2:g.214947503A>G	GRCh38
NC_000002.11:g.215812227A>G , CM000664.1:g.215812227A>G	GRCh37
NC_000002.10:g.215520472A>G	NCBI36
NG_007074.1:g.195925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7158T>C (ABCA12) MANE Select	ENSP00000272895.7:p.Ala2386=
ENST00000272895.11:c.7158T>C (ABCA12)	ENSP00000272895.7:p.Ala2386=
ENST00000389661.4:c.6204T>C (ABCA12)	ENSP00000374312.4:p.Ala2068=
NM_015657.3:c.6204T>C (ABCA12)	NP_056472.2:p.Ala2068=
NM_173076.2:c.7158T>C (ABCA12)	NP_775099.2:p.Ala2386=
NR_103740.1:n.7458T>C (ABCA12)
NR_110292.1:n.322-322A>G (SNHG31)
XM_011510951.1:c.7167T>C (ABCA12)	XP_011509253.1:p.Ala2389=
XM_011510951.2:c.7167T>C (ABCA12)	XP_011509253.1:p.Ala2389=
NM_173076.3:c.7158T>C (ABCA12) MANE Select	NP_775099.2:p.Ala2386=
NR_103740.2:n.7656T>C (ABCA12)
NM_015657.4:c.6204T>C (ABCA12)	NP_056472.2:p.Ala2068=