Canonical Allele Identifier: CA564905562
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1231713729
gnomAD v2: 5-174151654-AGAG-A
gnomAD v4: 5-174724651-AGAG-A
MyVariant Identifiers: chr5:g.174151655_174151657del (hg19) chr5:g.174724652_174724654del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724652_174724654del , CM000667.2:g.174724652_174724654del GRCh38
NC_000005.9:g.174151655_174151657del , CM000667.1:g.174151655_174151657del GRCh37
NC_000005.8:g.174084261_174084263del NCBI36
NG_008124.1:g.5081_5083del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-8_-6del MANE Select ENSP00000239243.5:n.-8_-6del
ENST00000239243.6:c.-8_-6del ENSP00000239243.5:n.-8_-6del
ENST00000507785.2:c.-8_-6del ENSP00000427425.1:n.-8_-6del
NM_002449.4:c.-8_-6del NP_002440.2:n.-8_-6del
NM_001363626.1:c.-8_-6del NP_001350555.1:n.-8_-6del
NM_002449.5:c.-8_-6del MANE Select NP_002440.2:n.-8_-6del
NM_001363626.2:c.-8_-6del NP_001350555.1:n.-8_-6del
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