Canonical Allele Identifier: CA362230069
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3212908
ClinVar RCV Id: RCV004503828
gnomAD v4: 5-174729309-G-A
MyVariant Identifiers: chr5:g.174156312G>A (hg19) chr5:g.174729309G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729309G>A , CM000667.2:g.174729309G>A GRCh38
NC_000005.9:g.174156312G>A , CM000667.1:g.174156312G>A GRCh37
NC_000005.8:g.174088918G>A NCBI36
NG_008124.1:g.9738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.530G>A MANE Select ENSP00000239243.5:p.Ser177Asn
ENST00000239243.6:c.530G>A ENSP00000239243.5:p.Ser177Asn
ENST00000507785.2:c.*154G>A ENSP00000427425.1:n.*154G>A
NM_002449.4:c.530G>A NP_002440.2:p.Ser177Asn
NM_001363626.1:c.*154G>A NP_001350555.1:n.*154G>A
NM_002449.5:c.530G>A MANE Select NP_002440.2:p.Ser177Asn
NM_001363626.2:c.*154G>A NP_001350555.1:n.*154G>A
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