Canonical Allele Identifier: CA362229183
Gene: MSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724792C>A , CM000667.2:g.174724792C>A GRCh38
NC_000005.9:g.174151795C>A , CM000667.1:g.174151795C>A GRCh37
NC_000005.8:g.174084401C>A NCBI36
NG_008124.1:g.5221C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.133C>A MANE Select ENSP00000239243.5:p.Leu45Met
ENST00000239243.6:c.133C>A ENSP00000239243.5:p.Leu45Met
ENST00000507785.2:c.133C>A ENSP00000427425.1:p.Leu45Met
NM_002449.4:c.133C>A NP_002440.2:p.Leu45Met
NM_001363626.1:c.133C>A NP_001350555.1:p.Leu45Met
NM_002449.5:c.133C>A MANE Select NP_002440.2:p.Leu45Met
NM_001363626.2:c.133C>A NP_001350555.1:p.Leu45Met