Canonical Allele Identifier: CA3565193
Gene: MSX2 HGNC NCBI
COSMIC:
COSM5654052 (not active)
MyVariant.info:
GRCh38 chr5:g.174729165T>C
GRCh37 chr5:g.174156168T>C
Revel Score:
ENST00000239243 (MANE Select) 0.227
gnomAD v2:
5:174156168 T / C
gnomAD v3:
5:174729165 T / C
gnomAD v4:
chr5-174729165-T-C
Joint Max Group AF 0.96976862 (EAS)
Genomes Max Group AF 0.96145049 (EAS)
Exomes Max Group AF 0.96842892 (EAS)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.386T>C MANE Select ENSP00000239243.5:p.Met129Thr
ENST00000239243.6:c.386T>C ENSP00000239243.5:p.Met129Thr
ENST00000507785.2:c.*10T>C ENSP00000427425.1:n.*10T>C
NM_002449.4:c.386T>C NP_002440.2:p.Met129Thr
NM_001363626.1:c.*10T>C NP_001350555.1:n.*10T>C
NM_002449.5:c.386T>C MANE Select NP_002440.2:p.Met129Thr
NM_001363626.2:c.*10T>C NP_001350555.1:n.*10T>C
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