Canonical Allele Identifier: CA447978958
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156388G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729385G>A , CM000667.2:g.174729385G>A GRCh38
NC_000005.9:g.174156388G>A , CM000667.1:g.174156388G>A GRCh37
NC_000005.8:g.174088994G>A NCBI36
NG_008124.1:g.9814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.606G>A MANE Select ENSP00000239243.5:p.Glu202=
ENST00000239243.6:c.606G>A ENSP00000239243.5:p.Glu202=
ENST00000507785.2:c.*230G>A ENSP00000427425.1:n.*230G>A
NM_002449.4:c.606G>A NP_002440.2:p.Glu202=
NM_001363626.1:c.*230G>A NP_001350555.1:n.*230G>A
NM_002449.5:c.606G>A MANE Select NP_002440.2:p.Glu202=
NM_001363626.2:c.*230G>A NP_001350555.1:n.*230G>A