Canonical Allele Identifier: CA362230216
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156376A>C (hg19) chr5:g.174729373A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729373A>C , CM000667.2:g.174729373A>C GRCh38
NC_000005.9:g.174156376A>C , CM000667.1:g.174156376A>C GRCh37
NC_000005.8:g.174088982A>C NCBI36
NG_008124.1:g.9802A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.594A>C MANE Select ENSP00000239243.5:p.Lys198Asn
ENST00000239243.6:c.594A>C ENSP00000239243.5:p.Lys198Asn
ENST00000507785.2:c.*218A>C ENSP00000427425.1:n.*218A>C
NM_002449.4:c.594A>C NP_002440.2:p.Lys198Asn
NM_001363626.1:c.*218A>C NP_001350555.1:n.*218A>C
NM_002449.5:c.594A>C MANE Select NP_002440.2:p.Lys198Asn
NM_001363626.2:c.*218A>C NP_001350555.1:n.*218A>C
Search 100 bp 5'
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