Canonical Allele Identifier: CA350447622

Gene: ABCA12 SNHG31

Linked Data

• ClinVar Variation Id: 488389
• ClinVar RCV Id: RCV000578204
• dbSNP Id: rs1553520468
• MyVariant Identifiers: chr2:g.215820086C>G (hg19) ; chr2:g.214955362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214955362C>G , CM000664.2:g.214955362C>G	GRCh38
NC_000002.11:g.215820086C>G , CM000664.1:g.215820086C>G	GRCh37
NC_000002.10:g.215528331C>G	NCBI36
NG_007074.1:g.188066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6234-1G>C (ABCA12) MANE Select	ENSP00000272895.7:n.6234-1G>C
ENST00000272895.11:c.6234-1G>C (ABCA12)	ENSP00000272895.7:n.6234-1G>C
ENST00000389661.4:c.5280-1G>C (ABCA12)	ENSP00000374312.4:n.5280-1G>C
NM_015657.3:c.5280-1G>C (ABCA12)	NP_056472.2:n.5280-1G>C
NM_173076.2:c.6234-1G>C (ABCA12)	NP_775099.2:n.6234-1G>C
NR_103740.1:n.6534-1G>C (ABCA12)
NR_110292.1:n.445-6448C>G (SNHG31)
XM_011510951.1:c.6243-1G>C (ABCA12)	XP_011509253.1:n.6243-1G>C
XM_011510951.2:c.6243-1G>C (ABCA12)	XP_011509253.1:n.6243-1G>C
NM_173076.3:c.6234-1G>C (ABCA12) MANE Select	NP_775099.2:n.6234-1G>C
NR_103740.2:n.6732-1G>C (ABCA12)
NM_015657.4:c.5280-1G>C (ABCA12)	NP_056472.2:n.5280-1G>C