Canonical Allele Identifier: CA2676572765
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174725077-GGTACT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725079_174725083del , CM000667.2:g.174725079_174725083del GRCh38
NC_000005.9:g.174152082_174152086del , CM000667.1:g.174152082_174152086del GRCh37
NC_000005.8:g.174084688_174084692del NCBI36
NG_008124.1:g.5508_5512del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+41_379+45del MANE Select ENSP00000239243.5:n.379+41_379+45del
ENST00000239243.6:c.379+41_379+45del ENSP00000239243.5:n.379+41_379+45del
ENST00000507785.2:c.*3+12_*3+16del ENSP00000427425.1:n.*3+12_*3+16del
NM_002449.4:c.379+41_379+45del NP_002440.2:n.379+41_379+45del
NM_001363626.1:c.*3+12_*3+16del NP_001350555.1:n.*3+12_*3+16del
NM_002449.5:c.379+41_379+45del MANE Select NP_002440.2:n.379+41_379+45del
NM_001363626.2:c.*3+12_*3+16del NP_001350555.1:n.*3+12_*3+16del
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