Canonical Allele Identifier: CA132700890
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs888125937
gnomAD v3: 5-174724601-C-A
gnomAD v4: 5-174724601-C-A
MyVariant Identifiers: chr5:g.174151604C>A (hg19) chr5:g.174724601C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724601C>A , CM000667.2:g.174724601C>A GRCh38
NC_000005.9:g.174151604C>A , CM000667.1:g.174151604C>A GRCh37
NC_000005.8:g.174084210C>A NCBI36
NG_008124.1:g.5030C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-59C>A MANE Select ENSP00000239243.5:n.-59C>A
ENST00000239243.6:c.-59C>A ENSP00000239243.5:n.-59C>A
NM_002449.4:c.-59C>A NP_002440.2:n.-59C>A
NM_001363626.1:c.-59C>A NP_001350555.1:n.-59C>A
NM_002449.5:c.-59C>A MANE Select NP_002440.2:n.-59C>A
NM_001363626.2:c.-59C>A NP_001350555.1:n.-59C>A
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