Canonical Allele Identifier: CA447978903

Gene: MSX2

Linked Data

• gnomAD v4: 5-174729340-A-G
• MyVariant Identifiers: chr5:g.174156343A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729340A>G , CM000667.2:g.174729340A>G	GRCh38
NC_000005.9:g.174156343A>G , CM000667.1:g.174156343A>G	GRCh37
NC_000005.8:g.174088949A>G	NCBI36
NG_008124.1:g.9769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.561A>G MANE Select	ENSP00000239243.5:p.Lys187=
ENST00000239243.6:c.561A>G	ENSP00000239243.5:p.Lys187=
ENST00000507785.2:c.*185A>G	ENSP00000427425.1:n.*185A>G
NM_002449.4:c.561A>G	NP_002440.2:p.Lys187=
NM_001363626.1:c.*185A>G	NP_001350555.1:n.*185A>G
NM_002449.5:c.561A>G MANE Select	NP_002440.2:p.Lys187=
NM_001363626.2:c.*185A>G	NP_001350555.1:n.*185A>G