Canonical Allele Identifier: CA447978954
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156382G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729379G>A , CM000667.2:g.174729379G>A GRCh38
NC_000005.9:g.174156382G>A , CM000667.1:g.174156382G>A GRCh37
NC_000005.8:g.174088988G>A NCBI36
NG_008124.1:g.9808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.600G>A MANE Select ENSP00000239243.5:p.Leu200=
ENST00000239243.6:c.600G>A ENSP00000239243.5:p.Leu200=
ENST00000507785.2:c.*224G>A ENSP00000427425.1:n.*224G>A
NM_002449.4:c.600G>A NP_002440.2:p.Leu200=
NM_001363626.1:c.*224G>A NP_001350555.1:n.*224G>A
NM_002449.5:c.600G>A MANE Select NP_002440.2:p.Leu200=
NM_001363626.2:c.*224G>A NP_001350555.1:n.*224G>A
Search 100 bp 5'
Search 100 bp 3'