Canonical Allele Identifier: CA3565080
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 352836
ClinVar RCV Id: RCV000310571 RCV000365140 RCV001653694
dbSNP Id: rs4647952
ExAC: 5:174151646 C / G
gnomAD v2: 5-174151646-C-G
gnomAD v3: 5-174724643-C-G
gnomAD v4: 5-174724643-C-G
MyVariant Identifiers: chr5:g.174151646C>G (hg19) chr5:g.174724643C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724643C>G , CM000667.2:g.174724643C>G GRCh38
NC_000005.9:g.174151646C>G , CM000667.1:g.174151646C>G GRCh37
NC_000005.8:g.174084252C>G NCBI36
NG_008124.1:g.5072C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-17C>G MANE Select ENSP00000239243.5:n.-17C>G
ENST00000239243.6:c.-17C>G ENSP00000239243.5:n.-17C>G
ENST00000507785.2:c.-17C>G ENSP00000427425.1:n.-17C>G
NM_002449.4:c.-17C>G NP_002440.2:n.-17C>G
NM_001363626.1:c.-17C>G NP_001350555.1:n.-17C>G
NM_002449.5:c.-17C>G MANE Select NP_002440.2:n.-17C>G
NM_001363626.2:c.-17C>G NP_001350555.1:n.-17C>G
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