Canonical Allele Identifier: CA807837347

Gene: MSX2

Linked Data

• dbSNP Id: rs1294824629
• gnomAD v3: 5-174724570-C-T
• gnomAD v4: 5-174724570-C-T
• MyVariant Identifiers: chr5:g.174151573C>T (hg19) ; chr5:g.174724570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724570C>T , CM000667.2:g.174724570C>T	GRCh38
NC_000005.9:g.174151573C>T , CM000667.1:g.174151573C>T	GRCh37
NC_000005.8:g.174084179C>T	NCBI36
NG_008124.1:g.4999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.6:c.-90C>T	ENSP00000239243.5:n.-90C>T