Canonical Allele Identifier: CA362229124

Gene: MSX2

Linked Data

• dbSNP Id: rs1213128510
• gnomAD v2: 5-174151768-G-A
• MyVariant Identifiers: chr5:g.174151768G>A (hg19) ; chr5:g.174724765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724765G>A , CM000667.2:g.174724765G>A	GRCh38
NC_000005.9:g.174151768G>A , CM000667.1:g.174151768G>A	GRCh37
NC_000005.8:g.174084374G>A	NCBI36
NG_008124.1:g.5194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.106G>A MANE Select	ENSP00000239243.5:p.Glu36Lys
ENST00000239243.6:c.106G>A	ENSP00000239243.5:p.Glu36Lys
ENST00000507785.2:c.106G>A	ENSP00000427425.1:p.Glu36Lys
NM_002449.4:c.106G>A	NP_002440.2:p.Glu36Lys
NM_001363626.1:c.106G>A	NP_001350555.1:p.Glu36Lys
NM_002449.5:c.106G>A MANE Select	NP_002440.2:p.Glu36Lys
NM_001363626.2:c.106G>A	NP_001350555.1:p.Glu36Lys