Canonical Allele Identifier: CA3565090
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2026310
ClinVar RCV Id: RCV002871293
dbSNP Id: rs367636705
ExAC: 5:174151685 A / G
gnomAD v2: 5-174151685-A-G
gnomAD v3: 5-174724682-A-G
gnomAD v4: 5-174724682-A-G
MyVariant Identifiers: chr5:g.174151685A>G (hg19) chr5:g.174724682A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724682A>G , CM000667.2:g.174724682A>G GRCh38
NC_000005.9:g.174151685A>G , CM000667.1:g.174151685A>G GRCh37
NC_000005.8:g.174084291A>G NCBI36
NG_008124.1:g.5111A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.23A>G MANE Select ENSP00000239243.5:p.Asn8Ser
ENST00000239243.6:c.23A>G ENSP00000239243.5:p.Asn8Ser
ENST00000507785.2:c.23A>G ENSP00000427425.1:p.Asn8Ser
NM_002449.4:c.23A>G NP_002440.2:p.Asn8Ser
NM_001363626.1:c.23A>G NP_001350555.1:p.Asn8Ser
NM_002449.5:c.23A>G MANE Select NP_002440.2:p.Asn8Ser
NM_001363626.2:c.23A>G NP_001350555.1:p.Asn8Ser
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