Canonical Allele Identifier: CA132700882
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs990773449
gnomAD v3: 5-174724584-A-C
gnomAD v4: 5-174724584-A-C
MyVariant Identifiers: chr5:g.174151587A>C (hg19) chr5:g.174724584A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724584A>C , CM000667.2:g.174724584A>C GRCh38
NC_000005.9:g.174151587A>C , CM000667.1:g.174151587A>C GRCh37
NC_000005.8:g.174084193A>C NCBI36
NG_008124.1:g.5013A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-76A>C MANE Select ENSP00000239243.5:n.-76A>C
ENST00000239243.6:c.-76A>C ENSP00000239243.5:n.-76A>C
NM_002449.4:c.-76A>C NP_002440.2:n.-76A>C
NM_001363626.1:c.-76A>C NP_001350555.1:n.-76A>C
NM_002449.5:c.-76A>C MANE Select NP_002440.2:n.-76A>C
NM_001363626.2:c.-76A>C NP_001350555.1:n.-76A>C
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