Canonical Allele Identifier: CA362230206
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156371G>A (hg19) chr5:g.174729368G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729368G>A , CM000667.2:g.174729368G>A GRCh38
NC_000005.9:g.174156371G>A , CM000667.1:g.174156371G>A GRCh37
NC_000005.8:g.174088977G>A NCBI36
NG_008124.1:g.9797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.589G>A MANE Select ENSP00000239243.5:p.Ala197Thr
ENST00000239243.6:c.589G>A ENSP00000239243.5:p.Ala197Thr
ENST00000507785.2:c.*213G>A ENSP00000427425.1:n.*213G>A
NM_002449.4:c.589G>A NP_002440.2:p.Ala197Thr
NM_001363626.1:c.*213G>A NP_001350555.1:n.*213G>A
NM_002449.5:c.589G>A MANE Select NP_002440.2:p.Ala197Thr
NM_001363626.2:c.*213G>A NP_001350555.1:n.*213G>A
Search 100 bp 5'
Search 100 bp 3'