Canonical Allele Identifier: CA447978522
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174151902G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724899G>T , CM000667.2:g.174724899G>T GRCh38
NC_000005.9:g.174151902G>T , CM000667.1:g.174151902G>T GRCh37
NC_000005.8:g.174084508G>T NCBI36
NG_008124.1:g.5328G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.240G>T MANE Select ENSP00000239243.5:p.Leu80=
ENST00000239243.6:c.240G>T ENSP00000239243.5:p.Leu80=
ENST00000507785.2:c.240G>T ENSP00000427425.1:p.Leu80=
NM_002449.4:c.240G>T NP_002440.2:p.Leu80=
NM_001363626.1:c.240G>T NP_001350555.1:p.Leu80=
NM_002449.5:c.240G>T MANE Select NP_002440.2:p.Leu80=
NM_001363626.2:c.240G>T NP_001350555.1:p.Leu80=