Canonical Allele Identifier: CA398717212

Gene: SLC47A2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19715177C>T , CM000679.2:g.19715177C>T	GRCh38
NC_000017.10:g.19618490C>T , CM000679.1:g.19618490C>T	GRCh37
NC_000017.9:g.19559082C>T	NCBI36
NG_052805.1:g.8803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433844.4:c.164G>A MANE Select	ENSP00000391848.3:p.Ser55Asn
ENST00000325411.9:c.164G>A	ENSP00000326671.5:p.Ser55Asn
ENST00000350657.9:c.164G>A	ENSP00000338084.6:p.Ser55Asn
ENST00000433844.2:c.164G>A	ENSP00000391848.2:p.Ser55Asn
ENST00000463318.5:n.910G>A
ENST00000467379.1:n.1052G>A
ENST00000467609.5:n.175G>A
ENST00000483510.2:n.261G>A
ENST00000574239.5:c.164G>A	ENSP00000458694.1:p.Ser55Asn
NM_001099646.1:c.164G>A	NP_001093116.1:p.Ser55Asn
NM_001256663.1:c.164G>A	NP_001243592.1:p.Ser55Asn
NM_152908.3:c.164G>A	NP_690872.2:p.Ser55Asn
XM_006721455.2:c.164G>A	XP_006721518.1:p.Ser55Asn
XM_006721457.2:c.164G>A	XP_006721520.1:p.Ser55Asn
XM_011523672.1:c.122G>A	XP_011521974.1:p.Ser41Asn
XM_011523673.1:c.17G>A	XP_011521975.1:p.Ser6Asn
XM_011523674.1:c.17G>A	XP_011521976.1:p.Ser6Asn
XM_011523675.1:c.164G>A	XP_011521977.1:p.Ser55Asn
XR_243543.3:n.773G>A
XR_933998.1:n.273G>A
XR_933999.1:n.273G>A
XR_934000.1:n.273G>A
XR_934001.1:n.273G>A
NR_135624.1:n.910G>A
NR_135625.1:n.339G>A
XM_017024221.1:c.164G>A	XP_016879710.1:p.Ser55Asn
XM_017024222.2:c.17G>A	XP_016879711.1:p.Ser6Asn
XM_017024223.1:c.164G>A	XP_016879712.1:p.Ser55Asn
XM_017024224.1:c.164G>A	XP_016879713.1:p.Ser55Asn
XM_017024225.1:c.164G>A	XP_016879714.1:p.Ser55Asn
XM_017024226.1:c.164G>A	XP_016879715.1:p.Ser55Asn
XR_001752432.1:n.273G>A
XR_001752433.1:n.273G>A
NM_001099646.2:c.164G>A	NP_001093116.1:p.Ser55Asn
NM_001256663.2:c.164G>A	NP_001243592.1:p.Ser55Asn
NM_152908.4:c.164G>A	NP_690872.2:p.Ser55Asn
NR_135625.2:n.193G>A
NM_001099646.3:c.164G>A MANE Select	NP_001093116.1:p.Ser55Asn
NM_001256663.3:c.164G>A	NP_001243592.1:p.Ser55Asn
NM_152908.5:c.164G>A	NP_690872.2:p.Ser55Asn
NR_135624.2:n.910G>A
NR_135625.3:n.193G>A