Canonical Allele Identifier: CA362229436
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1760746913
gnomAD v3: 5-174724916-C-A
gnomAD v4: 5-174724916-C-A
MyVariant Identifiers: chr5:g.174151919C>A (hg19) chr5:g.174724916C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724916C>A , CM000667.2:g.174724916C>A GRCh38
NC_000005.9:g.174151919C>A , CM000667.1:g.174151919C>A GRCh37
NC_000005.8:g.174084525C>A NCBI36
NG_008124.1:g.5345C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000239243.7:c.257C>A MANE Select ENSP00000239243.5:p.Ala86Asp
ENST00000239243.6:c.257C>A ENSP00000239243.5:p.Ala86Asp
ENST00000507785.2:c.257C>A ENSP00000427425.1:p.Ala86Asp
NM_002449.4:c.257C>A NP_002440.2:p.Ala86Asp
NM_001363626.1:c.257C>A NP_001350555.1:p.Ala86Asp
NM_002449.5:c.257C>A MANE Select NP_002440.2:p.Ala86Asp
NM_001363626.2:c.257C>A NP_001350555.1:p.Ala86Asp
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