Canonical Allele Identifier: CA362230206

Gene: MSX2

Linked Data

• MyVariant Identifiers: chr5:g.174156371G>A (hg19) ; chr5:g.174729368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729368G>A , CM000667.2:g.174729368G>A	GRCh38
NC_000005.9:g.174156371G>A , CM000667.1:g.174156371G>A	GRCh37
NC_000005.8:g.174088977G>A	NCBI36
NG_008124.1:g.9797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.589G>A MANE Select	ENSP00000239243.5:p.Ala197Thr
ENST00000239243.6:c.589G>A	ENSP00000239243.5:p.Ala197Thr
ENST00000507785.2:c.*213G>A	ENSP00000427425.1:n.*213G>A
NM_002449.4:c.589G>A	NP_002440.2:p.Ala197Thr
NM_001363626.1:c.*213G>A	NP_001350555.1:n.*213G>A
NM_002449.5:c.589G>A MANE Select	NP_002440.2:p.Ala197Thr
NM_001363626.2:c.*213G>A	NP_001350555.1:n.*213G>A