Canonical Allele Identifier: CA362230224

Gene: MSX2

Linked Data

• dbSNP Id: rs1760876015
• MyVariant Identifiers: chr5:g.174156380C>G (hg19) ; chr5:g.174729377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729377C>G , CM000667.2:g.174729377C>G	GRCh38
NC_000005.9:g.174156380C>G , CM000667.1:g.174156380C>G	GRCh37
NC_000005.8:g.174088986C>G	NCBI36
NG_008124.1:g.9806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.598C>G MANE Select	ENSP00000239243.5:p.Leu200Val
ENST00000239243.6:c.598C>G	ENSP00000239243.5:p.Leu200Val
ENST00000507785.2:c.*222C>G	ENSP00000427425.1:n.*222C>G
NM_002449.4:c.598C>G	NP_002440.2:p.Leu200Val
NM_001363626.1:c.*222C>G	NP_001350555.1:n.*222C>G
NM_002449.5:c.598C>G MANE Select	NP_002440.2:p.Leu200Val
NM_001363626.2:c.*222C>G	NP_001350555.1:n.*222C>G