Canonical Allele Identifier: CA3565123
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs748554134
ExAC: 5:174151942 C / T
gnomAD v2: 5-174151942-C-T
gnomAD v4: 5-174724939-C-T
MyVariant Identifiers: chr5:g.174151942C>T (hg19) chr5:g.174724939C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724939C>T , CM000667.2:g.174724939C>T GRCh38
NC_000005.9:g.174151942C>T , CM000667.1:g.174151942C>T GRCh37
NC_000005.8:g.174084548C>T NCBI36
NG_008124.1:g.5368C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.280C>T MANE Select ENSP00000239243.5:p.Pro94Ser
ENST00000239243.6:c.280C>T ENSP00000239243.5:p.Pro94Ser
ENST00000507785.2:c.280C>T ENSP00000427425.1:p.Pro94Ser
NM_002449.4:c.280C>T NP_002440.2:p.Pro94Ser
NM_001363626.1:c.280C>T NP_001350555.1:p.Pro94Ser
NM_002449.5:c.280C>T MANE Select NP_002440.2:p.Pro94Ser
NM_001363626.2:c.280C>T NP_001350555.1:p.Pro94Ser
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