Canonical Allele Identifier: CA3565195
Gene: MSX2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.174729165T>G
GRCh37 chr5:g.174156168T>G
Revel Score:
ENST00000239243 (MANE Select) 0.249
gnomAD v2:
5:174156168 T / G
gnomAD v3:
5:174729165 T / G
gnomAD v4:
chr5-174729165-T-G
Joint Max Group AF 0.00001328 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV005183215
ClinVar Variation:
3701851
dbSNP:
4242182
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729165T>G , CM000667.2:g.174729165T>G GRCh38
NC_000005.9:g.174156168T>G , CM000667.1:g.174156168T>G GRCh37
NC_000005.8:g.174088774T>G NCBI36
NG_008124.1:g.9594T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.386T>G MANE Select ENSP00000239243.5:p.Met129Arg
ENST00000239243.6:c.386T>G ENSP00000239243.5:p.Met129Arg
ENST00000507785.2:c.*10T>G ENSP00000427425.1:n.*10T>G
NM_002449.4:c.386T>G NP_002440.2:p.Met129Arg
NM_001363626.1:c.*10T>G NP_001350555.1:n.*10T>G
NM_002449.5:c.386T>G MANE Select NP_002440.2:p.Met129Arg
NM_001363626.2:c.*10T>G NP_001350555.1:n.*10T>G
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