Canonical Allele Identifier: CA407842003

Gene: KIR2DL4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54806157G>C , CM000681.2:g.54806157G>C	GRCh38
NC_000019.8:g.60009424G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001080770.2:c.568G>C MANE Select	NP_001074239.1:p.Gly190Arg
ENST00000345540.10:c.568G>C MANE Select	ENSP00000339634.5:p.Gly190Arg
NM_001080770.1:c.568G>C	NP_001074239.1:p.Gly190Arg
NM_001080772.1:c.568G>C	NP_001074241.1:p.Gly190Arg
NM_001080772.2:c.568G>C	NP_001074241.1:p.Gly190Arg
ENST00000345540.9:c.568G>C	ENSP00000339634.5:p.Gly190Arg
ENST00000346587.8:c.283G>C	ENSP00000345331.4:p.Gly95Arg
ENST00000357494.8:c.568G>C	ENSP00000350088.4:p.Gly190Arg
ENST00000359085.8:c.568G>C	ENSP00000351988.4:p.Gly190Arg
ENST00000396284.6:c.685G>C	ENSP00000379580.3:p.Gly229Arg
ENST00000396289.5:c.563G>C
ENST00000396293.5:c.283G>C	ENSP00000379588.1:p.Gly95Arg
ENST00000463062.1:n.580G>C
ENST00000486965.6:n.580G>C
XR_430260.1:n.690+10051C>G