Canonical Allele Identifier: CA362230064
Gene: MSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729306C>G , CM000667.2:g.174729306C>G GRCh38
NC_000005.9:g.174156309C>G , CM000667.1:g.174156309C>G GRCh37
NC_000005.8:g.174088915C>G NCBI36
NG_008124.1:g.9735C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000239243.7:c.527C>G MANE Select ENSP00000239243.5:p.Ser176Cys
ENST00000239243.6:c.527C>G ENSP00000239243.5:p.Ser176Cys
ENST00000507785.2:c.*151C>G ENSP00000427425.1:n.*151C>G
NM_002449.4:c.527C>G NP_002440.2:p.Ser176Cys
NM_001363626.1:c.*151C>G NP_001350555.1:n.*151C>G
NM_002449.5:c.527C>G MANE Select NP_002440.2:p.Ser176Cys
NM_001363626.2:c.*151C>G NP_001350555.1:n.*151C>G