Canonical Allele Identifier: CA362229715
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174152053C>A (hg19) chr5:g.174725050C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725050C>A , CM000667.2:g.174725050C>A GRCh38
NC_000005.9:g.174152053C>A , CM000667.1:g.174152053C>A GRCh37
NC_000005.8:g.174084659C>A NCBI36
NG_008124.1:g.5479C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+12C>A MANE Select ENSP00000239243.5:n.379+12C>A
ENST00000239243.6:c.379+12C>A ENSP00000239243.5:n.379+12C>A
ENST00000507785.2:c.391C>A ENSP00000427425.1:p.Pro131Thr
NM_002449.4:c.379+12C>A NP_002440.2:n.379+12C>A
NM_001363626.1:c.391C>A NP_001350555.1:p.Pro131Thr
NM_002449.5:c.379+12C>A MANE Select NP_002440.2:n.379+12C>A
NM_001363626.2:c.391C>A NP_001350555.1:p.Pro131Thr
Search 100 bp 5'
Search 100 bp 3'