Canonical Allele Identifier: CA362230255
Gene: MSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729390A>C , CM000667.2:g.174729390A>C GRCh38
NC_000005.9:g.174156393A>C , CM000667.1:g.174156393A>C GRCh37
NC_000005.8:g.174088999A>C NCBI36
NG_008124.1:g.9819A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.611A>C MANE Select ENSP00000239243.5:p.Glu204Ala
ENST00000239243.6:c.611A>C ENSP00000239243.5:p.Glu204Ala
ENST00000507785.2:c.*235A>C ENSP00000427425.1:n.*235A>C
NM_002449.4:c.611A>C NP_002440.2:p.Glu204Ala
NM_001363626.1:c.*235A>C NP_001350555.1:n.*235A>C
NM_002449.5:c.611A>C MANE Select NP_002440.2:p.Glu204Ala
NM_001363626.2:c.*235A>C NP_001350555.1:n.*235A>C