Canonical Allele Identifier: CA2580074045
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2077106
ClinVar RCV Id: RCV002972662
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724913del , CM000667.2:g.174724913del GRCh38
NC_000005.9:g.174151916del , CM000667.1:g.174151916del GRCh37
NC_000005.8:g.174084522del NCBI36
NG_008124.1:g.5342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.254del MANE Select ENSP00000239243.5:p.Gly85AlafsTer12
ENST00000239243.6:c.254del ENSP00000239243.5:p.Gly85AlafsTer12
ENST00000507785.2:c.254del ENSP00000427425.1:p.Gly85AlafsTer12
NM_002449.4:c.254del NP_002440.2:p.Gly85AlafsTer12
NM_001363626.1:c.254del NP_001350555.1:p.Gly85AlafsTer12
NM_002449.5:c.254del MANE Select NP_002440.2:p.Gly85AlafsTer12
NM_001363626.2:c.254del NP_001350555.1:p.Gly85AlafsTer12
Search 100 bp 5'
Search 100 bp 3'