Canonical Allele Identifier: CA362230254
Gene: MSX2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.611A>T MANE Select ENSP00000239243.5:p.Glu204Val
ENST00000239243.6:c.611A>T ENSP00000239243.5:p.Glu204Val
ENST00000507785.2:c.*235A>T ENSP00000427425.1:n.*235A>T
NM_002449.4:c.611A>T NP_002440.2:p.Glu204Val
NM_001363626.1:c.*235A>T NP_001350555.1:n.*235A>T
NM_002449.5:c.611A>T MANE Select NP_002440.2:p.Glu204Val
NM_001363626.2:c.*235A>T NP_001350555.1:n.*235A>T