Canonical Allele Identifier: CA362230126
Gene: MSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729334G>T , CM000667.2:g.174729334G>T GRCh38
NC_000005.9:g.174156337G>T , CM000667.1:g.174156337G>T GRCh37
NC_000005.8:g.174088943G>T NCBI36
NG_008124.1:g.9763G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.555G>T MANE Select ENSP00000239243.5:p.Gln185His
ENST00000239243.6:c.555G>T ENSP00000239243.5:p.Gln185His
ENST00000507785.2:c.*179G>T ENSP00000427425.1:n.*179G>T
NM_002449.4:c.555G>T NP_002440.2:p.Gln185His
NM_001363626.1:c.*179G>T NP_001350555.1:n.*179G>T
NM_002449.5:c.555G>T MANE Select NP_002440.2:p.Gln185His
NM_001363626.2:c.*179G>T NP_001350555.1:n.*179G>T