Canonical Allele Identifier: CA3565136
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2899561
ClinVar RCV Id: RCV003760312
dbSNP Id: rs766394089

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724991A>T , CM000667.2:g.174724991A>T GRCh38
NC_000005.9:g.174151994A>T , CM000667.1:g.174151994A>T GRCh37
NC_000005.8:g.174084600A>T NCBI36
NG_008124.1:g.5420A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.332A>T MANE Select ENSP00000239243.5:p.Asp111Val
ENST00000239243.6:c.332A>T ENSP00000239243.5:p.Asp111Val
ENST00000507785.2:c.332A>T ENSP00000427425.1:p.Asp111Val
NM_002449.4:c.332A>T NP_002440.2:p.Asp111Val
NM_001363626.1:c.332A>T NP_001350555.1:p.Asp111Val
NM_002449.5:c.332A>T MANE Select NP_002440.2:p.Asp111Val
NM_001363626.2:c.332A>T NP_001350555.1:p.Asp111Val