Canonical Allele Identifier: CA362229192
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174151799C>A (hg19) chr5:g.174724796C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724796C>A , CM000667.2:g.174724796C>A GRCh38
NC_000005.9:g.174151799C>A , CM000667.1:g.174151799C>A GRCh37
NC_000005.8:g.174084405C>A NCBI36
NG_008124.1:g.5225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.137C>A MANE Select ENSP00000239243.5:p.Pro46His
ENST00000239243.6:c.137C>A ENSP00000239243.5:p.Pro46His
ENST00000507785.2:c.137C>A ENSP00000427425.1:p.Pro46His
NM_002449.4:c.137C>A NP_002440.2:p.Pro46His
NM_001363626.1:c.137C>A NP_001350555.1:p.Pro46His
NM_002449.5:c.137C>A MANE Select NP_002440.2:p.Pro46His
NM_001363626.2:c.137C>A NP_001350555.1:p.Pro46His
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