Canonical Allele Identifier: CA2091710

Gene: ABCA12

Linked Data

• dbSNP Id: rs770579160
• ExAC: 2:215855478 A / G
• gnomAD v2: 2-215855478-A-G
• gnomAD v4: 2-214990754-A-G
• MyVariant Identifiers: chr2:g.215855478A>G (hg19) ; chr2:g.214990754A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990754A>G , CM000664.2:g.214990754A>G	GRCh38
NC_000002.11:g.215855478A>G , CM000664.1:g.215855478A>G	GRCh37
NC_000002.10:g.215563723A>G	NCBI36
NG_007074.1:g.152674T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3572T>C MANE Select	ENSP00000272895.7:p.Ile1191Thr
ENST00000272895.11:c.3572T>C	ENSP00000272895.7:p.Ile1191Thr
ENST00000389661.4:c.2618T>C	ENSP00000374312.4:p.Ile873Thr
NM_015657.3:c.2618T>C	NP_056472.2:p.Ile873Thr
NM_173076.2:c.3572T>C	NP_775099.2:p.Ile1191Thr
NR_103740.1:n.3872T>C
XM_011510951.1:c.3572T>C	XP_011509253.1:p.Ile1191Thr
XM_011510952.1:c.3572T>C	XP_011509254.1:p.Ile1191Thr
XM_011510951.2:c.3572T>C	XP_011509253.1:p.Ile1191Thr
NM_173076.3:c.3572T>C MANE Select	NP_775099.2:p.Ile1191Thr
NR_103740.2:n.4070T>C
NM_015657.4:c.2618T>C	NP_056472.2:p.Ile873Thr