Canonical Allele Identifier: CA3565101
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs773092522
ExAC: 5:174151751 GCGCCGAGGGGGC / G
gnomAD v2: 5-174151751-GCGCCGAGGGGGC-G
gnomAD v4: 5-174724748-GCGCCGAGGGGGC-G
MyVariant Identifiers: chr5:g.174151752_174151763del (hg19) chr5:g.174724749_174724760del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724752_174724763del , CM000667.2:g.174724752_174724763del GRCh38
NC_000005.9:g.174151755_174151766del , CM000667.1:g.174151755_174151766del GRCh37
NC_000005.8:g.174084361_174084372del NCBI36
NG_008124.1:g.5181_5192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.93_104del MANE Select ENSP00000239243.5:p.Glu32_Ala35del
ENST00000239243.6:c.93_104del ENSP00000239243.5:p.Glu32_Ala35del
ENST00000507785.2:c.93_104del ENSP00000427425.1:p.Glu32_Ala35del
NM_002449.4:c.93_104del NP_002440.2:p.Glu32_Ala35del
NM_001363626.1:c.93_104del NP_001350555.1:p.Glu32_Ala35del
NM_002449.5:c.93_104del MANE Select NP_002440.2:p.Glu32_Ala35del
NM_001363626.2:c.93_104del NP_001350555.1:p.Glu32_Ala35del
Search 100 bp 5'
Search 100 bp 3'