Canonical Allele Identifier: CA362230094

Gene: MSX2

Linked Data

• MyVariant Identifiers: chr5:g.174156323C>G (hg19) ; chr5:g.174729320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729320C>G , CM000667.2:g.174729320C>G	GRCh38
NC_000005.9:g.174156323C>G , CM000667.1:g.174156323C>G	GRCh37
NC_000005.8:g.174088929C>G	NCBI36
NG_008124.1:g.9749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.541C>G MANE Select	ENSP00000239243.5:p.Leu181Val
ENST00000239243.6:c.541C>G	ENSP00000239243.5:p.Leu181Val
ENST00000507785.2:c.*165C>G	ENSP00000427425.1:n.*165C>G
NM_002449.4:c.541C>G	NP_002440.2:p.Leu181Val
NM_001363626.1:c.*165C>G	NP_001350555.1:n.*165C>G
NM_002449.5:c.541C>G MANE Select	NP_002440.2:p.Leu181Val
NM_001363626.2:c.*165C>G	NP_001350555.1:n.*165C>G