Canonical Allele Identifier: CA3565229
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs781352134
ExAC: 5:174156352 C / T
gnomAD v2: 5-174156352-C-T
gnomAD v4: 5-174729349-C-T
MyVariant Identifiers: chr5:g.174156352C>T (hg19) chr5:g.174729349C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729349C>T , CM000667.2:g.174729349C>T GRCh38
NC_000005.9:g.174156352C>T , CM000667.1:g.174156352C>T GRCh37
NC_000005.8:g.174088958C>T NCBI36
NG_008124.1:g.9778C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.570C>T MANE Select ENSP00000239243.5:p.Phe190=
ENST00000239243.6:c.570C>T ENSP00000239243.5:p.Phe190=
ENST00000507785.2:c.*194C>T ENSP00000427425.1:n.*194C>T
NM_002449.4:c.570C>T NP_002440.2:p.Phe190=
NM_001363626.1:c.*194C>T NP_001350555.1:n.*194C>T
NM_002449.5:c.570C>T MANE Select NP_002440.2:p.Phe190=
NM_001363626.2:c.*194C>T NP_001350555.1:n.*194C>T
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