Canonical Allele Identifier: CA362229387
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2209831
ClinVar RCV Id: RCV002655485
dbSNP Id: rs1333463536
gnomAD v2: 5-174151894-C-T
gnomAD v4: 5-174724891-C-T
MyVariant Identifiers: chr5:g.174151894C>T (hg19) chr5:g.174724891C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724891C>T , CM000667.2:g.174724891C>T GRCh38
NC_000005.9:g.174151894C>T , CM000667.1:g.174151894C>T GRCh37
NC_000005.8:g.174084500C>T NCBI36
NG_008124.1:g.5320C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.232C>T MANE Select ENSP00000239243.5:p.Pro78Ser
ENST00000239243.6:c.232C>T ENSP00000239243.5:p.Pro78Ser
ENST00000507785.2:c.232C>T ENSP00000427425.1:p.Pro78Ser
NM_002449.4:c.232C>T NP_002440.2:p.Pro78Ser
NM_001363626.1:c.232C>T NP_001350555.1:p.Pro78Ser
NM_002449.5:c.232C>T MANE Select NP_002440.2:p.Pro78Ser
NM_001363626.2:c.232C>T NP_001350555.1:p.Pro78Ser
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