Canonical Allele Identifier: CA350483610

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011543-A-G
• MyVariant Identifiers: chr2:g.215876267A>G (hg19) ; chr2:g.215011543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011543A>G , CM000664.2:g.215011543A>G	GRCh38
NC_000002.11:g.215876267A>G , CM000664.1:g.215876267A>G	GRCh37
NC_000002.10:g.215584512A>G	NCBI36
NG_007074.1:g.131885T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2228T>C MANE Select	ENSP00000272895.7:p.Leu743Pro
ENST00000272895.11:c.2228T>C	ENSP00000272895.7:p.Leu743Pro
ENST00000389661.4:c.1274T>C	ENSP00000374312.4:p.Leu425Pro
NM_015657.3:c.1274T>C	NP_056472.2:p.Leu425Pro
NM_173076.2:c.2228T>C	NP_775099.2:p.Leu743Pro
NR_103740.1:n.2472T>C
XM_011510951.1:c.2228T>C	XP_011509253.1:p.Leu743Pro
XM_011510952.1:c.2228T>C	XP_011509254.1:p.Leu743Pro
XM_011510951.2:c.2228T>C	XP_011509253.1:p.Leu743Pro
NM_173076.3:c.2228T>C MANE Select	NP_775099.2:p.Leu743Pro
NR_103740.2:n.2670T>C
NM_015657.4:c.1274T>C	NP_056472.2:p.Leu425Pro