Canonical Allele Identifier: CA362229172
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898205
ClinVar RCV Id: RCV003760295

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724786T>C , CM000667.2:g.174724786T>C GRCh38
NC_000005.9:g.174151789T>C , CM000667.1:g.174151789T>C GRCh37
NC_000005.8:g.174084395T>C NCBI36
NG_008124.1:g.5215T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.127T>C MANE Select ENSP00000239243.5:p.Ser43Pro
ENST00000239243.6:c.127T>C ENSP00000239243.5:p.Ser43Pro
ENST00000507785.2:c.127T>C ENSP00000427425.1:p.Ser43Pro
NM_002449.4:c.127T>C NP_002440.2:p.Ser43Pro
NM_001363626.1:c.127T>C NP_001350555.1:p.Ser43Pro
NM_002449.5:c.127T>C MANE Select NP_002440.2:p.Ser43Pro
NM_001363626.2:c.127T>C NP_001350555.1:p.Ser43Pro