Canonical Allele Identifier: CA807837351

Gene: MSX2

Linked Data

• dbSNP Id: rs373735781
• gnomAD v3: 5-174724575-C-G
• gnomAD v4: 5-174724575-C-G
• MyVariant Identifiers: chr5:g.174151578C>G (hg19) ; chr5:g.174724575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724575C>G , CM000667.2:g.174724575C>G	GRCh38
NC_000005.9:g.174151578C>G , CM000667.1:g.174151578C>G	GRCh37
NC_000005.8:g.174084184C>G	NCBI36
NG_008124.1:g.5004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.6:c.-85C>G	ENSP00000239243.5:n.-85C>G
NM_002449.4:c.-85C>G	NP_002440.2:n.-85C>G
NM_001363626.1:c.-85C>G	NP_001350555.1:n.-85C>G