Canonical Allele Identifier: CA362230220

Gene: MSX2

Linked Data

• gnomAD v4: 5-174729375-G-A
• MyVariant Identifiers: chr5:g.174156378G>A (hg19) ; chr5:g.174729375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729375G>A , CM000667.2:g.174729375G>A	GRCh38
NC_000005.9:g.174156378G>A , CM000667.1:g.174156378G>A	GRCh37
NC_000005.8:g.174088984G>A	NCBI36
NG_008124.1:g.9804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.596G>A MANE Select	ENSP00000239243.5:p.Arg199Lys
ENST00000239243.6:c.596G>A	ENSP00000239243.5:p.Arg199Lys
ENST00000507785.2:c.*220G>A	ENSP00000427425.1:n.*220G>A
NM_002449.4:c.596G>A	NP_002440.2:p.Arg199Lys
NM_001363626.1:c.*220G>A	NP_001350555.1:n.*220G>A
NM_002449.5:c.596G>A MANE Select	NP_002440.2:p.Arg199Lys
NM_001363626.2:c.*220G>A	NP_001350555.1:n.*220G>A