Canonical Allele Identifier: CA362229409
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174151907C>G (hg19) chr5:g.174724904C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724904C>G , CM000667.2:g.174724904C>G GRCh38
NC_000005.9:g.174151907C>G , CM000667.1:g.174151907C>G GRCh37
NC_000005.8:g.174084513C>G NCBI36
NG_008124.1:g.5333C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000239243.7:c.245C>G MANE Select ENSP00000239243.5:p.Ser82Trp
ENST00000239243.6:c.245C>G ENSP00000239243.5:p.Ser82Trp
ENST00000507785.2:c.245C>G ENSP00000427425.1:p.Ser82Trp
NM_002449.4:c.245C>G NP_002440.2:p.Ser82Trp
NM_001363626.1:c.245C>G NP_001350555.1:p.Ser82Trp
NM_002449.5:c.245C>G MANE Select NP_002440.2:p.Ser82Trp
NM_001363626.2:c.245C>G NP_001350555.1:p.Ser82Trp
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