Canonical Allele Identifier: CA2578488490

Gene: MSX2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725066_174725068dup , CM000667.2:g.174725066_174725068dup	GRCh38
NC_000005.9:g.174152069_174152071dup , CM000667.1:g.174152069_174152071dup	GRCh37
NC_000005.8:g.174084675_174084677dup	NCBI36
NG_008124.1:g.5495_5497dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+28_379+30dup MANE Select	ENSP00000239243.5:n.379+28_379+30dup
ENST00000239243.6:c.379+28_379+30dup	ENSP00000239243.5:n.379+28_379+30dup
ENST00000507785.2:c.*2_*3+1dup
NM_002449.4:c.379+28_379+30dup	NP_002440.2:n.379+28_379+30dup
NM_001363626.1:c.*2_*3+1dup
NM_002449.5:c.379+28_379+30dup MANE Select	NP_002440.2:n.379+28_379+30dup
NM_001363626.2:c.*2_*3+1dup