Canonical Allele Identifier: CA362229206
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1376736
ClinVar RCV Id: RCV001912092
dbSNP Id: rs1760741097
gnomAD v4: 5-174724802-G-C
MyVariant Identifiers: chr5:g.174151805G>C (hg19) chr5:g.174724802G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724802G>C , CM000667.2:g.174724802G>C GRCh38
NC_000005.9:g.174151805G>C , CM000667.1:g.174151805G>C GRCh37
NC_000005.8:g.174084411G>C NCBI36
NG_008124.1:g.5231G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.143G>C MANE Select ENSP00000239243.5:p.Ser48Thr
ENST00000239243.6:c.143G>C ENSP00000239243.5:p.Ser48Thr
ENST00000507785.2:c.143G>C ENSP00000427425.1:p.Ser48Thr
NM_002449.4:c.143G>C NP_002440.2:p.Ser48Thr
NM_001363626.1:c.143G>C NP_001350555.1:p.Ser48Thr
NM_002449.5:c.143G>C MANE Select NP_002440.2:p.Ser48Thr
NM_001363626.2:c.143G>C NP_001350555.1:p.Ser48Thr
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