Canonical Allele Identifier: CA350792339

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214932656-T-C
• MyVariant Identifiers: chr2:g.215797380T>C (hg19) ; chr2:g.214932656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932656T>C , CM000664.2:g.214932656T>C	GRCh38
NC_000002.11:g.215797380T>C , CM000664.1:g.215797380T>C	GRCh37
NC_000002.10:g.215505625T>C	NCBI36
NG_007074.1:g.210772A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7766A>G (ABCA12) MANE Select	ENSP00000272895.7:p.Gln2589Arg
ENST00000272895.11:c.7766A>G (ABCA12)	ENSP00000272895.7:p.Gln2589Arg
ENST00000389661.4:c.6812A>G (ABCA12)	ENSP00000374312.4:p.Gln2271Arg
NM_015657.3:c.6812A>G (ABCA12)	NP_056472.2:p.Gln2271Arg
NM_173076.2:c.7766A>G (ABCA12)	NP_775099.2:p.Gln2589Arg
NR_103740.1:n.8066A>G (ABCA12)
NR_110292.1:n.322-15169T>C (SNHG31)
XM_011510951.1:c.7775A>G (ABCA12)	XP_011509253.1:p.Gln2592Arg
XM_011510951.2:c.7775A>G (ABCA12)	XP_011509253.1:p.Gln2592Arg
NM_173076.3:c.7766A>G (ABCA12) MANE Select	NP_775099.2:p.Gln2589Arg
NR_103740.2:n.8264A>G (ABCA12)
NM_015657.4:c.6812A>G (ABCA12)	NP_056472.2:p.Gln2271Arg