Canonical Allele Identifier: CA431388019

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818640A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953916A>C , CM000664.2:g.214953916A>C	GRCh38
NC_000002.11:g.215818640A>C , CM000664.1:g.215818640A>C	GRCh37
NC_000002.10:g.215526885A>C	NCBI36
NG_007074.1:g.189512T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6585T>G (ABCA12) MANE Select	ENSP00000272895.7:p.Ser2195=
ENST00000272895.11:c.6585T>G (ABCA12)	ENSP00000272895.7:p.Ser2195=
ENST00000389661.4:c.5631T>G (ABCA12)	ENSP00000374312.4:p.Ser1877=
NM_015657.3:c.5631T>G (ABCA12)	NP_056472.2:p.Ser1877=
NM_173076.2:c.6585T>G (ABCA12)	NP_775099.2:p.Ser2195=
NR_103740.1:n.6885T>G (ABCA12)
NR_110292.1:n.444+5969A>C (SNHG31)
XM_011510951.1:c.6594T>G (ABCA12)	XP_011509253.1:p.Ser2198=
XM_011510951.2:c.6594T>G (ABCA12)	XP_011509253.1:p.Ser2198=
NM_173076.3:c.6585T>G (ABCA12) MANE Select	NP_775099.2:p.Ser2195=
NR_103740.2:n.7083T>G (ABCA12)
NM_015657.4:c.5631T>G (ABCA12)	NP_056472.2:p.Ser1877=