Canonical Allele Identifier: CA364869708
Community Standard Title: NM_138409.4(MRAP2):c.565A>G (p.Ile189Val)
Gene: MRAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.84089428A>G , CM000668.2:g.84089428A>G GRCh38
NC_000006.11:g.84799147A>G , CM000668.1:g.84799147A>G GRCh37
NC_000006.10:g.84855866A>G NCBI36
NG_051944.1:g.60770A>G

Transcript Alleles

HGVS Amino-acid Change
NM_138409.4:c.565A>G MANE Select NP_612418.2:p.Ile189Val
ENST00000257776.5:c.565A>G MANE Select ENSP00000257776.4:p.Ile189Val
NM_001346541.1:c.307A>G NP_001333470.1:p.Ile103Val
NM_001346541.2:c.307A>G NP_001333470.1:p.Ile103Val
NM_001346542.1:c.565A>G NP_001333471.1:p.Ile189Val
NM_001346542.2:c.565A>G NP_001333471.1:p.Ile189Val
NM_001346543.1:c.400A>G NP_001333472.1:p.Ile134Val
NM_001346543.2:c.400A>G NP_001333472.1:p.Ile134Val
NM_001346544.1:c.565A>G NP_001333473.1:p.Ile189Val
NM_001346544.2:c.565A>G NP_001333473.1:p.Ile189Val
NM_138409.2:c.565A>G NP_612418.2:p.Ile189Val
NM_138409.3:c.565A>G NP_612418.2:p.Ile189Val
ENST00000257776.4:c.565A>G ENSP00000257776.4:p.Ile189Val
XM_005248644.2:c.565A>G XP_005248701.1:p.Ile189Val
XM_005248645.2:c.565A>G XP_005248702.1:p.Ile189Val
XM_011535400.1:c.565A>G XP_011533702.1:p.Ile189Val
XM_011535401.1:c.565A>G XP_011533703.1:p.Ile189Val
XM_011535402.1:c.227+26436A>G XP_011533704.1:n.227+26436A>G
XM_011535403.1:c.227+26436A>G XP_011533705.1:n.227+26436A>G
XM_017010220.1:c.565A>G XP_016865709.1:p.Ile189Val
XM_017010221.2:c.227+26436A>G XP_016865710.1:n.227+26436A>G