Canonical Allele Identifier: CA3565194
Gene: MSX2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.174729165T>A
GRCh37 chr5:g.174156168T>A
Revel Score:
ENST00000239243 (MANE Select) 0.253
gnomAD v2:
5:174156168 T / A
gnomAD v4:
chr5-174729165-T-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
dbSNP:
4242182
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.386T>A MANE Select ENSP00000239243.5:p.Met129Lys
ENST00000239243.6:c.386T>A ENSP00000239243.5:p.Met129Lys
ENST00000507785.2:c.*10T>A ENSP00000427425.1:n.*10T>A
NM_002449.4:c.386T>A NP_002440.2:p.Met129Lys
NM_001363626.1:c.*10T>A NP_001350555.1:n.*10T>A
NM_002449.5:c.386T>A MANE Select NP_002440.2:p.Met129Lys
NM_001363626.2:c.*10T>A NP_001350555.1:n.*10T>A
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