Canonical Allele Identifier: CA3565119
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs752778789

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724929C>G , CM000667.2:g.174724929C>G GRCh38
NC_000005.9:g.174151932C>G , CM000667.1:g.174151932C>G GRCh37
NC_000005.8:g.174084538C>G NCBI36
NG_008124.1:g.5358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.270C>G MANE Select ENSP00000239243.5:p.His90Gln
ENST00000239243.6:c.270C>G ENSP00000239243.5:p.His90Gln
ENST00000507785.2:c.270C>G ENSP00000427425.1:p.His90Gln
NM_002449.4:c.270C>G NP_002440.2:p.His90Gln
NM_001363626.1:c.270C>G NP_001350555.1:p.His90Gln
NM_002449.5:c.270C>G MANE Select NP_002440.2:p.His90Gln
NM_001363626.2:c.270C>G NP_001350555.1:p.His90Gln