Canonical Allele Identifier: CA2769499392
Gene: MSX2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725046_174725054del , CM000667.2:g.174725046_174725054del GRCh38
NC_000005.9:g.174152049_174152057del , CM000667.1:g.174152049_174152057del GRCh37
NC_000005.8:g.174084655_174084663del NCBI36
NG_008124.1:g.5475_5483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+8_379+16del MANE Select ENSP00000239243.5:n.379+8_379+16del
ENST00000239243.6:c.379+8_379+16del ENSP00000239243.5:n.379+8_379+16del
ENST00000507785.2:c.387_395del ENSP00000427425.1:p.Cys129_Gly132delinsTrp
NM_002449.4:c.379+8_379+16del NP_002440.2:n.379+8_379+16del
NM_001363626.1:c.387_395del NP_001350555.1:p.Cys129_Gly132delinsTrp
NM_002449.5:c.379+8_379+16del MANE Select NP_002440.2:n.379+8_379+16del
NM_001363626.2:c.387_395del NP_001350555.1:p.Cys129_Gly132delinsTrp
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