Canonical Allele Identifier: CA3565155

Gene: MSX2

Linked Data

• ClinVar Variation Id: 2721852
• ClinVar RCV Id: RCV003595331
• dbSNP Id: rs774294067
• ExAC: 5:174152054 C / T
• gnomAD v2: 5-174152054-C-T
• gnomAD v4: 5-174725051-C-T
• MyVariant Identifiers: chr5:g.174152054C>T (hg19) ; chr5:g.174152054_174152055delinsTG (hg19) ; chr5:g.174725051C>T (hg38) ; chr5:g.174725051_174725052delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725051C>T , CM000667.2:g.174725051C>T	GRCh38
NC_000005.9:g.174152054C>T , CM000667.1:g.174152054C>T	GRCh37
NC_000005.8:g.174084660C>T	NCBI36
NG_008124.1:g.5480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+13C>T MANE Select	ENSP00000239243.5:n.379+13C>T
ENST00000239243.6:c.379+13C>T	ENSP00000239243.5:n.379+13C>T
ENST00000507785.2:c.392C>T	ENSP00000427425.1:p.Pro131Leu
NM_002449.4:c.379+13C>T	NP_002440.2:n.379+13C>T
NM_001363626.1:c.392C>T	NP_001350555.1:p.Pro131Leu
NM_002449.5:c.379+13C>T MANE Select	NP_002440.2:n.379+13C>T
NM_001363626.2:c.392C>T	NP_001350555.1:p.Pro131Leu