Canonical Allele Identifier: CA3565080

Gene: MSX2

Linked Data

• ClinVar Variation Id: 352836
• ClinVar RCV Id: RCV000310571 ; RCV000365140 ; RCV001653694
• dbSNP Id: rs4647952
• ExAC: 5:174151646 C / G
• gnomAD v2: 5-174151646-C-G
• gnomAD v3: 5-174724643-C-G
• gnomAD v4: 5-174724643-C-G
• MyVariant Identifiers: chr5:g.174151646C>G (hg19) ; chr5:g.174724643C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724643C>G , CM000667.2:g.174724643C>G	GRCh38
NC_000005.9:g.174151646C>G , CM000667.1:g.174151646C>G	GRCh37
NC_000005.8:g.174084252C>G	NCBI36
NG_008124.1:g.5072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.-17C>G MANE Select	ENSP00000239243.5:n.-17C>G
ENST00000239243.6:c.-17C>G	ENSP00000239243.5:n.-17C>G
ENST00000507785.2:c.-17C>G	ENSP00000427425.1:n.-17C>G
NM_002449.4:c.-17C>G	NP_002440.2:n.-17C>G
NM_001363626.1:c.-17C>G	NP_001350555.1:n.-17C>G
NM_002449.5:c.-17C>G MANE Select	NP_002440.2:n.-17C>G
NM_001363626.2:c.-17C>G	NP_001350555.1:n.-17C>G