Canonical Allele Identifier: CA362230130
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174729336-T-A
MyVariant Identifiers: chr5:g.174156339T>A (hg19) chr5:g.174729336T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729336T>A , CM000667.2:g.174729336T>A GRCh38
NC_000005.9:g.174156339T>A , CM000667.1:g.174156339T>A GRCh37
NC_000005.8:g.174088945T>A NCBI36
NG_008124.1:g.9765T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.557T>A MANE Select ENSP00000239243.5:p.Val186Asp
ENST00000239243.6:c.557T>A ENSP00000239243.5:p.Val186Asp
ENST00000507785.2:c.*181T>A ENSP00000427425.1:n.*181T>A
NM_002449.4:c.557T>A NP_002440.2:p.Val186Asp
NM_001363626.1:c.*181T>A NP_001350555.1:n.*181T>A
NM_002449.5:c.557T>A MANE Select NP_002440.2:p.Val186Asp
NM_001363626.2:c.*181T>A NP_001350555.1:n.*181T>A
Search 100 bp 5'
Search 100 bp 3'