Canonical Allele Identifier: CA1602346823
Gene: MSX2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725051_174725052delinsCG , CM000667.2:g.174725051_174725052delinsCG GRCh38
NC_000005.9:g.174152054_174152055delinsCG , CM000667.1:g.174152054_174152055delinsCG GRCh37
NC_000005.8:g.174084660_174084661delinsCG NCBI36
NG_008124.1:g.5480_5481delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+13_379+14delinsCG MANE Select ENSP00000239243.5:n.379+13_379+14delinsCG
ENST00000239243.6:c.379+13_379+14delinsCG ENSP00000239243.5:n.379+13_379+14delinsCG
ENST00000507785.2:c.392_393delinsCG ENSP00000427425.1:p.Pro131=
NM_002449.4:c.379+13_379+14delinsCG NP_002440.2:n.379+13_379+14delinsCG
NM_001363626.1:c.392_393delinsCG NP_001350555.1:p.Pro131=
NM_002449.5:c.379+13_379+14delinsCG MANE Select NP_002440.2:n.379+13_379+14delinsCG
NM_001363626.2:c.392_393delinsCG NP_001350555.1:p.Pro131=
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