Canonical Allele Identifier: CA3565114
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618164
ClinVar RCV Id: RCV002079754
dbSNP Id: rs531764887
ExAC: 5:174151914 C / T
gnomAD v2: 5-174151914-C-T
gnomAD v3: 5-174724911-C-T
gnomAD v4: 5-174724911-C-T
MyVariant Identifiers: chr5:g.174151914C>T (hg19) chr5:g.174724911C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724911C>T , CM000667.2:g.174724911C>T GRCh38
NC_000005.9:g.174151914C>T , CM000667.1:g.174151914C>T GRCh37
NC_000005.8:g.174084520C>T NCBI36
NG_008124.1:g.5340C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000239243.7:c.252C>T MANE Select ENSP00000239243.5:p.His84=
ENST00000239243.6:c.252C>T ENSP00000239243.5:p.His84=
ENST00000507785.2:c.252C>T ENSP00000427425.1:p.His84=
NM_002449.4:c.252C>T NP_002440.2:p.His84=
NM_001363626.1:c.252C>T NP_001350555.1:p.His84=
NM_002449.5:c.252C>T MANE Select NP_002440.2:p.His84=
NM_001363626.2:c.252C>T NP_001350555.1:p.His84=
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