Canonical Allele Identifier: CA447978929
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156361A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729358A>G , CM000667.2:g.174729358A>G GRCh38
NC_000005.9:g.174156361A>G , CM000667.1:g.174156361A>G GRCh37
NC_000005.8:g.174088967A>G NCBI36
NG_008124.1:g.9787A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.579A>G MANE Select ENSP00000239243.5:p.Arg193=
ENST00000239243.6:c.579A>G ENSP00000239243.5:p.Arg193=
ENST00000507785.2:c.*203A>G ENSP00000427425.1:n.*203A>G
NM_002449.4:c.579A>G NP_002440.2:p.Arg193=
NM_001363626.1:c.*203A>G NP_001350555.1:n.*203A>G
NM_002449.5:c.579A>G MANE Select NP_002440.2:p.Arg193=
NM_001363626.2:c.*203A>G NP_001350555.1:n.*203A>G