Canonical Allele Identifier: CA362229657

Gene: MSX2

Linked Data

• dbSNP Id: rs1760751825
• MyVariant Identifiers: chr5:g.174152026T>C (hg19) ; chr5:g.174725023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725023T>C , CM000667.2:g.174725023T>C	GRCh38
NC_000005.9:g.174152026T>C , CM000667.1:g.174152026T>C	GRCh37
NC_000005.8:g.174084632T>C	NCBI36
NG_008124.1:g.5452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.364T>C MANE Select	ENSP00000239243.5:p.Tyr122His
ENST00000239243.6:c.364T>C	ENSP00000239243.5:p.Tyr122His
ENST00000507785.2:c.364T>C	ENSP00000427425.1:p.Tyr122His
NM_002449.4:c.364T>C	NP_002440.2:p.Tyr122His
NM_001363626.1:c.364T>C	NP_001350555.1:p.Tyr122His
NM_002449.5:c.364T>C MANE Select	NP_002440.2:p.Tyr122His
NM_001363626.2:c.364T>C	NP_001350555.1:p.Tyr122His