Canonical Allele Identifier: CA132700904
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs939684065
gnomAD v2: 5-174151742-G-A
gnomAD v3: 5-174724739-G-A
gnomAD v4: 5-174724739-G-A
MyVariant Identifiers: chr5:g.174151742G>A (hg19) chr5:g.174724739G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724739G>A , CM000667.2:g.174724739G>A GRCh38
NC_000005.9:g.174151742G>A , CM000667.1:g.174151742G>A GRCh37
NC_000005.8:g.174084348G>A NCBI36
NG_008124.1:g.5168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.80G>A MANE Select ENSP00000239243.5:p.Gly27Glu
ENST00000239243.6:c.80G>A ENSP00000239243.5:p.Gly27Glu
ENST00000507785.2:c.80G>A ENSP00000427425.1:p.Gly27Glu
NM_002449.4:c.80G>A NP_002440.2:p.Gly27Glu
NM_001363626.1:c.80G>A NP_001350555.1:p.Gly27Glu
NM_002449.5:c.80G>A MANE Select NP_002440.2:p.Gly27Glu
NM_001363626.2:c.80G>A NP_001350555.1:p.Gly27Glu
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