Canonical Allele Identifier: CA362229712
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174152051C>G (hg19) chr5:g.174725048C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725048C>G , CM000667.2:g.174725048C>G GRCh38
NC_000005.9:g.174152051C>G , CM000667.1:g.174152051C>G GRCh37
NC_000005.8:g.174084657C>G NCBI36
NG_008124.1:g.5477C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+10C>G MANE Select ENSP00000239243.5:n.379+10C>G
ENST00000239243.6:c.379+10C>G ENSP00000239243.5:n.379+10C>G
ENST00000507785.2:c.389C>G ENSP00000427425.1:p.Ala130Gly
NM_002449.4:c.379+10C>G NP_002440.2:n.379+10C>G
NM_001363626.1:c.389C>G NP_001350555.1:p.Ala130Gly
NM_002449.5:c.379+10C>G MANE Select NP_002440.2:n.379+10C>G
NM_001363626.2:c.389C>G NP_001350555.1:p.Ala130Gly
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