Canonical Allele Identifier: CA362230100
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1453621117
gnomAD v2: 5-174156326-A-G
COSMIC: COSM245786
MyVariant Identifiers: chr5:g.174156326A>G (hg19) chr5:g.174729323A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729323A>G , CM000667.2:g.174729323A>G GRCh38
NC_000005.9:g.174156326A>G , CM000667.1:g.174156326A>G GRCh37
NC_000005.8:g.174088932A>G NCBI36
NG_008124.1:g.9752A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.544A>G MANE Select ENSP00000239243.5:p.Thr182Ala
ENST00000239243.6:c.544A>G ENSP00000239243.5:p.Thr182Ala
ENST00000507785.2:c.*168A>G ENSP00000427425.1:n.*168A>G
NM_002449.4:c.544A>G NP_002440.2:p.Thr182Ala
NM_001363626.1:c.*168A>G NP_001350555.1:n.*168A>G
NM_002449.5:c.544A>G MANE Select NP_002440.2:p.Thr182Ala
NM_001363626.2:c.*168A>G NP_001350555.1:n.*168A>G
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