Canonical Allele Identifier: CA64798890

Gene: ABCA12 SNHG31

Linked Data

• ClinVar Variation Id: 896530
• ClinVar RCV Id: RCV001139232
• dbSNP Id: rs947649130
• MyVariant Identifiers: chr2:g.215820079T>G (hg19) ; chr2:g.214955355T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214955355T>G , CM000664.2:g.214955355T>G	GRCh38
NC_000002.11:g.215820079T>G , CM000664.1:g.215820079T>G	GRCh37
NC_000002.10:g.215528324T>G	NCBI36
NG_007074.1:g.188073A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6240A>C (ABCA12) MANE Select	ENSP00000272895.7:p.Ala2080=
ENST00000272895.11:c.6240A>C (ABCA12)	ENSP00000272895.7:p.Ala2080=
ENST00000389661.4:c.5286A>C (ABCA12)	ENSP00000374312.4:p.Ala1762=
NM_015657.3:c.5286A>C (ABCA12)	NP_056472.2:p.Ala1762=
NM_173076.2:c.6240A>C (ABCA12)	NP_775099.2:p.Ala2080=
NR_103740.1:n.6540A>C (ABCA12)
NR_110292.1:n.445-6455T>G (SNHG31)
XM_011510951.1:c.6249A>C (ABCA12)	XP_011509253.1:p.Ala2083=
XM_011510951.2:c.6249A>C (ABCA12)	XP_011509253.1:p.Ala2083=
NM_173076.3:c.6240A>C (ABCA12) MANE Select	NP_775099.2:p.Ala2080=
NR_103740.2:n.6738A>C (ABCA12)
NM_015657.4:c.5286A>C (ABCA12)	NP_056472.2:p.Ala1762=