Canonical Allele Identifier: CA3909638
Community Standard Title: NM_138409.4(MRAP2):c.317G>A (p.Arg106His)
Gene: MRAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.84089180G>A , CM000668.2:g.84089180G>A GRCh38
NC_000006.11:g.84798899G>A , CM000668.1:g.84798899G>A GRCh37
NC_000006.10:g.84855618G>A NCBI36
NG_051944.1:g.60522G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138409.4:c.317G>A MANE Select NP_612418.2:p.Arg106His
ENST00000257776.5:c.317G>A MANE Select ENSP00000257776.4:p.Arg106His
NM_001346541.1:c.59G>A NP_001333470.1:p.Arg20His
NM_001346541.2:c.59G>A NP_001333470.1:p.Arg20His
NM_001346542.1:c.317G>A NP_001333471.1:p.Arg106His
NM_001346542.2:c.317G>A NP_001333471.1:p.Arg106His
NM_001346543.1:c.152G>A NP_001333472.1:p.Arg51His
NM_001346543.2:c.152G>A NP_001333472.1:p.Arg51His
NM_001346544.1:c.317G>A NP_001333473.1:p.Arg106His
NM_001346544.2:c.317G>A NP_001333473.1:p.Arg106His
NM_138409.2:c.317G>A NP_612418.2:p.Arg106His
NM_138409.3:c.317G>A NP_612418.2:p.Arg106His
ENST00000257776.4:c.317G>A ENSP00000257776.4:p.Arg106His
XM_005248644.2:c.317G>A XP_005248701.1:p.Arg106His
XM_005248645.2:c.317G>A XP_005248702.1:p.Arg106His
XM_011535400.1:c.317G>A XP_011533702.1:p.Arg106His
XM_011535401.1:c.317G>A XP_011533703.1:p.Arg106His
XM_011535402.1:c.227+26188G>A XP_011533704.1:n.227+26188G>A
XM_011535403.1:c.227+26188G>A XP_011533705.1:n.227+26188G>A
XM_017010220.1:c.317G>A XP_016865709.1:p.Arg106His
XM_017010221.2:c.227+26188G>A XP_016865710.1:n.227+26188G>A