Canonical Allele Identifier: CA132701454
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs199732800
gnomAD v3: 5-174729375-G-T
gnomAD v4: 5-174729375-G-T
MyVariant Identifiers: chr5:g.174156378G>T (hg19) chr5:g.174729375G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729375G>T , CM000667.2:g.174729375G>T GRCh38
NC_000005.9:g.174156378G>T , CM000667.1:g.174156378G>T GRCh37
NC_000005.8:g.174088984G>T NCBI36
NG_008124.1:g.9804G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.596G>T MANE Select ENSP00000239243.5:p.Arg199Ile
ENST00000239243.6:c.596G>T ENSP00000239243.5:p.Arg199Ile
ENST00000507785.2:c.*220G>T ENSP00000427425.1:n.*220G>T
NM_002449.4:c.596G>T NP_002440.2:p.Arg199Ile
NM_001363626.1:c.*220G>T NP_001350555.1:n.*220G>T
NM_002449.5:c.596G>T MANE Select NP_002440.2:p.Arg199Ile
NM_001363626.2:c.*220G>T NP_001350555.1:n.*220G>T
Search 100 bp 5'
Search 100 bp 3'