Canonical Allele Identifier: CA431319076

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214932730-G-A
• MyVariant Identifiers: chr2:g.215797454G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932730G>A , CM000664.2:g.214932730G>A	GRCh38
NC_000002.11:g.215797454G>A , CM000664.1:g.215797454G>A	GRCh37
NC_000002.10:g.215505699G>A	NCBI36
NG_007074.1:g.210698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7692C>T (ABCA12) MANE Select	ENSP00000272895.7:p.Asn2564=
ENST00000272895.11:c.7692C>T (ABCA12)	ENSP00000272895.7:p.Asn2564=
ENST00000389661.4:c.6738C>T (ABCA12)	ENSP00000374312.4:p.Asn2246=
NM_015657.3:c.6738C>T (ABCA12)	NP_056472.2:p.Asn2246=
NM_173076.2:c.7692C>T (ABCA12)	NP_775099.2:p.Asn2564=
NR_103740.1:n.7992C>T (ABCA12)
NR_110292.1:n.322-15095G>A (SNHG31)
XM_011510951.1:c.7701C>T (ABCA12)	XP_011509253.1:p.Asn2567=
XM_011510951.2:c.7701C>T (ABCA12)	XP_011509253.1:p.Asn2567=
NM_173076.3:c.7692C>T (ABCA12) MANE Select	NP_775099.2:p.Asn2564=
NR_103740.2:n.8190C>T (ABCA12)
NM_015657.4:c.6738C>T (ABCA12)	NP_056472.2:p.Asn2246=