Canonical Allele Identifier: CA3565103
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs747350286
ExAC: 5:174151761 G / A
gnomAD v2: 5-174151761-G-A
gnomAD v3: 5-174724758-G-A
gnomAD v4: 5-174724758-G-A
MyVariant Identifiers: chr5:g.174151761G>A (hg19) chr5:g.174724758G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724758G>A , CM000667.2:g.174724758G>A GRCh38
NC_000005.9:g.174151761G>A , CM000667.1:g.174151761G>A GRCh37
NC_000005.8:g.174084367G>A NCBI36
NG_008124.1:g.5187G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.99G>A MANE Select ENSP00000239243.5:p.Gly33=
ENST00000239243.6:c.99G>A ENSP00000239243.5:p.Gly33=
ENST00000507785.2:c.99G>A ENSP00000427425.1:p.Gly33=
NM_002449.4:c.99G>A NP_002440.2:p.Gly33=
NM_001363626.1:c.99G>A NP_001350555.1:p.Gly33=
NM_002449.5:c.99G>A MANE Select NP_002440.2:p.Gly33=
NM_001363626.2:c.99G>A NP_001350555.1:p.Gly33=
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