Canonical Allele Identifier: CA2676572794
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174725103-G-GCT
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725103_174725104insCT , CM000667.2:g.174725103_174725104insCT GRCh38
NC_000005.9:g.174152106_174152107insCT , CM000667.1:g.174152106_174152107insCT GRCh37
NC_000005.8:g.174084712_174084713insCT NCBI36
NG_008124.1:g.5532_5533insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+65_379+66insCT MANE Select ENSP00000239243.5:n.379+65_379+66insCT
ENST00000239243.6:c.379+65_379+66insCT ENSP00000239243.5:n.379+65_379+66insCT
ENST00000507785.2:c.*3+36_*3+37insCT ENSP00000427425.1:n.*3+36_*3+37insCT
NM_002449.4:c.379+65_379+66insCT NP_002440.2:n.379+65_379+66insCT
NM_001363626.1:c.*3+36_*3+37insCT NP_001350555.1:n.*3+36_*3+37insCT
NM_002449.5:c.379+65_379+66insCT MANE Select NP_002440.2:n.379+65_379+66insCT
NM_001363626.2:c.*3+36_*3+37insCT NP_001350555.1:n.*3+36_*3+37insCT
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