Canonical Allele Identifier: CA350792508

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215797457G>C (hg19) ; chr2:g.214932733G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932733G>C , CM000664.2:g.214932733G>C	GRCh38
NC_000002.11:g.215797457G>C , CM000664.1:g.215797457G>C	GRCh37
NC_000002.10:g.215505702G>C	NCBI36
NG_007074.1:g.210695C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7689C>G (ABCA12) MANE Select	ENSP00000272895.7:p.Ile2563Met
ENST00000272895.11:c.7689C>G (ABCA12)	ENSP00000272895.7:p.Ile2563Met
ENST00000389661.4:c.6735C>G (ABCA12)	ENSP00000374312.4:p.Ile2245Met
NM_015657.3:c.6735C>G (ABCA12)	NP_056472.2:p.Ile2245Met
NM_173076.2:c.7689C>G (ABCA12)	NP_775099.2:p.Ile2563Met
NR_103740.1:n.7989C>G (ABCA12)
NR_110292.1:n.322-15092G>C (SNHG31)
XM_011510951.1:c.7698C>G (ABCA12)	XP_011509253.1:p.Ile2566Met
XM_011510951.2:c.7698C>G (ABCA12)	XP_011509253.1:p.Ile2566Met
NM_173076.3:c.7689C>G (ABCA12) MANE Select	NP_775099.2:p.Ile2563Met
NR_103740.2:n.8187C>G (ABCA12)
NM_015657.4:c.6735C>G (ABCA12)	NP_056472.2:p.Ile2245Met