Canonical Allele Identifier: CA447978926
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156359C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729356C>A , CM000667.2:g.174729356C>A GRCh38
NC_000005.9:g.174156359C>A , CM000667.1:g.174156359C>A GRCh37
NC_000005.8:g.174088965C>A NCBI36
NG_008124.1:g.9785C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.577C>A MANE Select ENSP00000239243.5:p.Arg193=
ENST00000239243.6:c.577C>A ENSP00000239243.5:p.Arg193=
ENST00000507785.2:c.*201C>A ENSP00000427425.1:n.*201C>A
NM_002449.4:c.577C>A NP_002440.2:p.Arg193=
NM_001363626.1:c.*201C>A NP_001350555.1:n.*201C>A
NM_002449.5:c.577C>A MANE Select NP_002440.2:p.Arg193=
NM_001363626.2:c.*201C>A NP_001350555.1:n.*201C>A