Canonical Allele Identifier: CA309908531
Community Standard Title: NM_001080770.2(KIR2DL4):c.568G>A (p.Gly190Arg)
Gene: KIR2DL4 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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