Canonical Allele Identifier: CA362229707
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174725046-C-A
MyVariant Identifiers: chr5:g.174152049C>A (hg19) chr5:g.174725046C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725046C>A , CM000667.2:g.174725046C>A GRCh38
NC_000005.9:g.174152049C>A , CM000667.1:g.174152049C>A GRCh37
NC_000005.8:g.174084655C>A NCBI36
NG_008124.1:g.5475C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+8C>A MANE Select ENSP00000239243.5:n.379+8C>A
ENST00000239243.6:c.379+8C>A ENSP00000239243.5:n.379+8C>A
ENST00000507785.2:c.387C>A ENSP00000427425.1:p.Cys129Ter
NM_002449.4:c.379+8C>A NP_002440.2:n.379+8C>A
NM_001363626.1:c.387C>A NP_001350555.1:p.Cys129Ter
NM_002449.5:c.379+8C>A MANE Select NP_002440.2:n.379+8C>A
NM_001363626.2:c.387C>A NP_001350555.1:p.Cys129Ter
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