Canonical Allele Identifier: CA380108579
Community Standard Title: NM_005574.4(LMO2):c.14C>T (p.Ala5Val)
Gene: LMO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.33869580G>A , CM000673.2:g.33869580G>A GRCh38
NC_000011.9:g.33891126G>A , CM000673.1:g.33891126G>A GRCh37
NC_000011.8:g.33847702G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005574.4:c.14C>T MANE Select NP_005565.2:p.Ala5Val
ENST00000257818.3:c.14C>T MANE Select ENSP00000257818.2:p.Ala5Val
NM_001142315.1:c.-194C>T NP_001135787.1:n.-194C>T
NM_001142315.2:c.-194C>T NP_001135787.1:n.-194C>T
NM_001142316.1:c.-194C>T NP_001135788.1:n.-194C>T
NM_001142316.2:c.-194C>T NP_001135788.1:n.-194C>T
NM_005574.3:c.14C>T NP_005565.2:p.Ala5Val
ENST00000257818.2:c.14C>T ENSP00000257818.2:p.Ala5Val
ENST00000395833.7:c.-194C>T ENSP00000379175.3:n.-194C>T
ENST00000465614.1:n.581C>T
ENST00000493667.1:n.355C>T
XM_005252921.1:c.-194C>T XP_005252978.1:n.-194C>T
XM_005252921.3:c.-194C>T XP_005252978.1:n.-194C>T
XM_011520101.1:c.14C>T XP_011518403.1:p.Ala5Val
XM_017017727.2:c.-194C>T XP_016873216.1:n.-194C>T
XM_017017728.1:c.-194C>T XP_016873217.1:n.-194C>T
XM_017017729.1:c.-194C>T XP_016873218.1:n.-194C>T
XM_017017730.1:c.-194C>T XP_016873219.1:n.-194C>T
XM_017017731.1:c.-194C>T XP_016873220.1:n.-194C>T
XM_017017732.1:c.-194C>T XP_016873221.1:n.-194C>T
XM_017017733.1:c.-194C>T XP_016873222.1:n.-194C>T