Canonical Allele Identifier: CA431388399

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2842005
• ClinVar RCV Id: RCV003721273
• MyVariant Identifiers: chr2:g.215855696A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990972A>G , CM000664.2:g.214990972A>G	GRCh38
NC_000002.11:g.215855696A>G , CM000664.1:g.215855696A>G	GRCh37
NC_000002.10:g.215563941A>G	NCBI36
NG_007074.1:g.152456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3354T>C MANE Select	ENSP00000272895.7:p.Ser1118=
ENST00000272895.11:c.3354T>C	ENSP00000272895.7:p.Ser1118=
ENST00000389661.4:c.2400T>C	ENSP00000374312.4:p.Ser800=
NM_015657.3:c.2400T>C	NP_056472.2:p.Ser800=
NM_173076.2:c.3354T>C	NP_775099.2:p.Ser1118=
NR_103740.1:n.3654T>C
XM_011510951.1:c.3354T>C	XP_011509253.1:p.Ser1118=
XM_011510952.1:c.3354T>C	XP_011509254.1:p.Ser1118=
XM_011510951.2:c.3354T>C	XP_011509253.1:p.Ser1118=
NM_173076.3:c.3354T>C MANE Select	NP_775099.2:p.Ser1118=
NR_103740.2:n.3852T>C
NM_015657.4:c.2400T>C	NP_056472.2:p.Ser800=