Canonical Allele Identifier: CA3565154
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs760675746
ExAC: 5:174152054 CG / C
gnomAD v2: 5-174152054-CG-C
gnomAD v3: 5-174725051-CG-C
gnomAD v4: 5-174725051-CG-C
MyVariant Identifiers: chr5:g.174152055del (hg19) chr5:g.174725052del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725055del , CM000667.2:g.174725055del GRCh38
NC_000005.9:g.174152058del , CM000667.1:g.174152058del GRCh37
NC_000005.8:g.174084664del NCBI36
NG_008124.1:g.5484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+17del MANE Select ENSP00000239243.5:n.379+17del
ENST00000239243.6:c.379+17del ENSP00000239243.5:n.379+17del
ENST00000507785.2:c.396del ENSP00000427425.1:p.Gln133ArgfsTer?
NM_002449.4:c.379+17del NP_002440.2:n.379+17del
NM_001363626.1:c.396del NP_001350555.1:p.Gln133ArgfsTer?
NM_002449.5:c.379+17del MANE Select NP_002440.2:n.379+17del
NM_001363626.2:c.396del NP_001350555.1:p.Gln133ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'