Canonical Allele Identifier: CA807837397

Gene: MSX2

Linked Data

• dbSNP Id: rs1369008532
• gnomAD v3: 5-174724609-CCGGGTTGCCAGCGGAGTCGCGCGT-C
• gnomAD v4: 5-174724609-CCGGGTTGCCAGCGGAGTCGCGCGT-C
• MyVariant Identifiers: chr5:g.174151613_174151636del (hg19) ; chr5:g.174724610_174724633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724614_174724637del , CM000667.2:g.174724614_174724637del	GRCh38
NC_000005.9:g.174151617_174151640del , CM000667.1:g.174151617_174151640del	GRCh37
NC_000005.8:g.174084223_174084246del	NCBI36
NG_008124.1:g.5043_5066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.-46_-23del MANE Select	ENSP00000239243.5:n.-46_-23del
ENST00000239243.6:c.-46_-23del	ENSP00000239243.5:n.-46_-23del
ENST00000507785.2:c.-46_-23del	ENSP00000427425.1:n.-46_-23del
NM_002449.4:c.-46_-23del	NP_002440.2:n.-46_-23del
NM_001363626.1:c.-46_-23del	NP_001350555.1:n.-46_-23del
NM_002449.5:c.-46_-23del MANE Select	NP_002440.2:n.-46_-23del
NM_001363626.2:c.-46_-23del	NP_001350555.1:n.-46_-23del