Canonical Allele Identifier: CA362229215
Gene: MSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724807G>A , CM000667.2:g.174724807G>A GRCh38
NC_000005.9:g.174151810G>A , CM000667.1:g.174151810G>A GRCh37
NC_000005.8:g.174084416G>A NCBI36
NG_008124.1:g.5236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.148G>A MANE Select ENSP00000239243.5:p.Glu50Lys
ENST00000239243.6:c.148G>A ENSP00000239243.5:p.Glu50Lys
ENST00000507785.2:c.148G>A ENSP00000427425.1:p.Glu50Lys
NM_002449.4:c.148G>A NP_002440.2:p.Glu50Lys
NM_001363626.1:c.148G>A NP_001350555.1:p.Glu50Lys
NM_002449.5:c.148G>A MANE Select NP_002440.2:p.Glu50Lys
NM_001363626.2:c.148G>A NP_001350555.1:p.Glu50Lys