Canonical Allele Identifier: CA362230282

Gene: MSX2

Linked Data

• MyVariant Identifiers: chr5:g.174156405T>G (hg19) ; chr5:g.174729402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729402T>G , CM000667.2:g.174729402T>G	GRCh38
NC_000005.9:g.174156405T>G , CM000667.1:g.174156405T>G	GRCh37
NC_000005.8:g.174089011T>G	NCBI36
NG_008124.1:g.9831T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.623T>G MANE Select	ENSP00000239243.5:p.Leu208Arg
ENST00000239243.6:c.623T>G	ENSP00000239243.5:p.Leu208Arg
ENST00000507785.2:c.*247T>G	ENSP00000427425.1:n.*247T>G
NM_002449.4:c.623T>G	NP_002440.2:p.Leu208Arg
NM_001363626.1:c.*247T>G	NP_001350555.1:n.*247T>G
NM_002449.5:c.623T>G MANE Select	NP_002440.2:p.Leu208Arg
NM_001363626.2:c.*247T>G	NP_001350555.1:n.*247T>G