Canonical Allele Identifier: CA3565169

Gene: MSX2

Linked Data

• dbSNP Id: rs768589268
• ExAC: 5:174152101 C / G
• MyVariant Identifiers: chr5:g.174152101C>G (hg19) ; chr5:g.174725098C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725098C>G , CM000667.2:g.174725098C>G	GRCh38
NC_000005.9:g.174152101C>G , CM000667.1:g.174152101C>G	GRCh37
NC_000005.8:g.174084707C>G	NCBI36
NG_008124.1:g.5527C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+60C>G MANE Select	ENSP00000239243.5:n.379+60C>G
ENST00000239243.6:c.379+60C>G	ENSP00000239243.5:n.379+60C>G
ENST00000507785.2:c.*3+31C>G	ENSP00000427425.1:n.*3+31C>G
NM_002449.4:c.379+60C>G	NP_002440.2:n.379+60C>G
NM_001363626.1:c.*3+31C>G	NP_001350555.1:n.*3+31C>G
NM_002449.5:c.379+60C>G MANE Select	NP_002440.2:n.379+60C>G
NM_001363626.2:c.*3+31C>G	NP_001350555.1:n.*3+31C>G