Canonical Allele Identifier: CA2769499391
Gene: MSX2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724665_174724709del , CM000667.2:g.174724665_174724709del GRCh38
NC_000005.9:g.174151668_174151712del , CM000667.1:g.174151668_174151712del GRCh37
NC_000005.8:g.174084274_174084318del NCBI36
NG_008124.1:g.5094_5138del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.6_50del MANE Select ENSP00000239243.5:p.Ser3_Gly17del
ENST00000239243.6:c.6_50del ENSP00000239243.5:p.Ser3_Gly17del
ENST00000507785.2:c.6_50del ENSP00000427425.1:p.Ser3_Gly17del
NM_002449.4:c.6_50del NP_002440.2:p.Ser3_Gly17del
NM_001363626.1:c.6_50del NP_001350555.1:p.Ser3_Gly17del
NM_002449.5:c.6_50del MANE Select NP_002440.2:p.Ser3_Gly17del
NM_001363626.2:c.6_50del NP_001350555.1:p.Ser3_Gly17del
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