Canonical Allele Identifier: CA350446048

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs776770580
• gnomAD v3: 2-214953897-A-C
• gnomAD v4: 2-214953897-A-C
• MyVariant Identifiers: chr2:g.215818621A>C (hg19) ; chr2:g.214953897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953897A>C , CM000664.2:g.214953897A>C	GRCh38
NC_000002.11:g.215818621A>C , CM000664.1:g.215818621A>C	GRCh37
NC_000002.10:g.215526866A>C	NCBI36
NG_007074.1:g.189531T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6604T>G (ABCA12) MANE Select	ENSP00000272895.7:p.Ser2202Ala
ENST00000272895.11:c.6604T>G (ABCA12)	ENSP00000272895.7:p.Ser2202Ala
ENST00000389661.4:c.5650T>G (ABCA12)	ENSP00000374312.4:p.Ser1884Ala
NM_015657.3:c.5650T>G (ABCA12)	NP_056472.2:p.Ser1884Ala
NM_173076.2:c.6604T>G (ABCA12)	NP_775099.2:p.Ser2202Ala
NR_103740.1:n.6904T>G (ABCA12)
NR_110292.1:n.444+5950A>C (SNHG31)
XM_011510951.1:c.6613T>G (ABCA12)	XP_011509253.1:p.Ser2205Ala
XM_011510951.2:c.6613T>G (ABCA12)	XP_011509253.1:p.Ser2205Ala
NM_173076.3:c.6604T>G (ABCA12) MANE Select	NP_775099.2:p.Ser2202Ala
NR_103740.2:n.7102T>G (ABCA12)
NM_015657.4:c.5650T>G (ABCA12)	NP_056472.2:p.Ser1884Ala