Canonical Allele Identifier: CA3565248

Gene: MSX2

Linked Data

• ClinVar Variation Id: 352838
• ClinVar RCV Id: RCV000331763 ; RCV000542377 ; RCV002229895 ; RCV003972481
• dbSNP Id: rs201880865
• ExAC: 5:174156481 G / A
• gnomAD v2: 5-174156481-G-A
• gnomAD v3: 5-174729478-G-A
• gnomAD v4: 5-174729478-G-A
• COSMIC: COSM6199462
• MyVariant Identifiers: chr5:g.174156481G>A (hg19) ; chr5:g.174729478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729478G>A , CM000667.2:g.174729478G>A	GRCh38
NC_000005.9:g.174156481G>A , CM000667.1:g.174156481G>A	GRCh37
NC_000005.8:g.174089087G>A	NCBI36
NG_008124.1:g.9907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.699G>A MANE Select	ENSP00000239243.5:p.Ala233=
ENST00000239243.6:c.699G>A	ENSP00000239243.5:p.Ala233=
ENST00000507785.2:c.*323G>A	ENSP00000427425.1:n.*323G>A
NM_002449.4:c.699G>A	NP_002440.2:p.Ala233=
NM_001363626.1:c.*323G>A	NP_001350555.1:n.*323G>A
NM_002449.5:c.699G>A MANE Select	NP_002440.2:p.Ala233=
NM_001363626.2:c.*323G>A	NP_001350555.1:n.*323G>A