Canonical Allele Identifier: CA362230083
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156318T>C (hg19) chr5:g.174729315T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729315T>C , CM000667.2:g.174729315T>C GRCh38
NC_000005.9:g.174156318T>C , CM000667.1:g.174156318T>C GRCh37
NC_000005.8:g.174088924T>C NCBI36
NG_008124.1:g.9744T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.536T>C MANE Select ENSP00000239243.5:p.Leu179Pro
ENST00000239243.6:c.536T>C ENSP00000239243.5:p.Leu179Pro
ENST00000507785.2:c.*160T>C ENSP00000427425.1:n.*160T>C
NM_002449.4:c.536T>C NP_002440.2:p.Leu179Pro
NM_001363626.1:c.*160T>C NP_001350555.1:n.*160T>C
NM_002449.5:c.536T>C MANE Select NP_002440.2:p.Leu179Pro
NM_001363626.2:c.*160T>C NP_001350555.1:n.*160T>C
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