Canonical Allele Identifier: CA3565138
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2726611
ClinVar RCV Id: RCV003595440
dbSNP Id: rs367897914
ExAC: 5:174152000 C / T
gnomAD v3: 5-174724997-C-T
gnomAD v4: 5-174724997-C-T
COSMIC: COSM3614243
MyVariant Identifiers: chr5:g.174152000C>T (hg19) chr5:g.174724997C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724997C>T , CM000667.2:g.174724997C>T GRCh38
NC_000005.9:g.174152000C>T , CM000667.1:g.174152000C>T GRCh37
NC_000005.8:g.174084606C>T NCBI36
NG_008124.1:g.5426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.338C>T MANE Select ENSP00000239243.5:p.Ala113Val
ENST00000239243.6:c.338C>T ENSP00000239243.5:p.Ala113Val
ENST00000507785.2:c.338C>T ENSP00000427425.1:p.Ala113Val
NM_002449.4:c.338C>T NP_002440.2:p.Ala113Val
NM_001363626.1:c.338C>T NP_001350555.1:p.Ala113Val
NM_002449.5:c.338C>T MANE Select NP_002440.2:p.Ala113Val
NM_001363626.2:c.338C>T NP_001350555.1:p.Ala113Val
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