Canonical Allele Identifier: CA447978950
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156376A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729373A>G , CM000667.2:g.174729373A>G GRCh38
NC_000005.9:g.174156376A>G , CM000667.1:g.174156376A>G GRCh37
NC_000005.8:g.174088982A>G NCBI36
NG_008124.1:g.9802A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.594A>G MANE Select ENSP00000239243.5:p.Lys198=
ENST00000239243.6:c.594A>G ENSP00000239243.5:p.Lys198=
ENST00000507785.2:c.*218A>G ENSP00000427425.1:n.*218A>G
NM_002449.4:c.594A>G NP_002440.2:p.Lys198=
NM_001363626.1:c.*218A>G NP_001350555.1:n.*218A>G
NM_002449.5:c.594A>G MANE Select NP_002440.2:p.Lys198=
NM_001363626.2:c.*218A>G NP_001350555.1:n.*218A>G