Canonical Allele Identifier: CA362229542
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174724970-T-C
MyVariant Identifiers: chr5:g.174151973T>C (hg19) chr5:g.174724970T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724970T>C , CM000667.2:g.174724970T>C GRCh38
NC_000005.9:g.174151973T>C , CM000667.1:g.174151973T>C GRCh37
NC_000005.8:g.174084579T>C NCBI36
NG_008124.1:g.5399T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.311T>C MANE Select ENSP00000239243.5:p.Val104Ala
ENST00000239243.6:c.311T>C ENSP00000239243.5:p.Val104Ala
ENST00000507785.2:c.311T>C ENSP00000427425.1:p.Val104Ala
NM_002449.4:c.311T>C NP_002440.2:p.Val104Ala
NM_001363626.1:c.311T>C NP_001350555.1:p.Val104Ala
NM_002449.5:c.311T>C MANE Select NP_002440.2:p.Val104Ala
NM_001363626.2:c.311T>C NP_001350555.1:p.Val104Ala
Search 100 bp 5'
Search 100 bp 3'