Canonical Allele Identifier: CA3565142
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs777537313
ExAC: 5:174152018 C / A
gnomAD v2: 5-174152018-C-A
gnomAD v3: 5-174725015-C-A
gnomAD v4: 5-174725015-C-A
MyVariant Identifiers: chr5:g.174152018C>A (hg19) chr5:g.174725015C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725015C>A , CM000667.2:g.174725015C>A GRCh38
NC_000005.9:g.174152018C>A , CM000667.1:g.174152018C>A GRCh37
NC_000005.8:g.174084624C>A NCBI36
NG_008124.1:g.5444C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.356C>A MANE Select ENSP00000239243.5:p.Pro119His
ENST00000239243.6:c.356C>A ENSP00000239243.5:p.Pro119His
ENST00000507785.2:c.356C>A ENSP00000427425.1:p.Pro119His
NM_002449.4:c.356C>A NP_002440.2:p.Pro119His
NM_001363626.1:c.356C>A NP_001350555.1:p.Pro119His
NM_002449.5:c.356C>A MANE Select NP_002440.2:p.Pro119His
NM_001363626.2:c.356C>A NP_001350555.1:p.Pro119His
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