Canonical Allele Identifier: CA3565117

Gene: MSX2

Linked Data

• dbSNP Id: rs750488190
• ExAC: 5:174151921 C / T
• gnomAD v2: 5-174151921-C-T
• gnomAD v3: 5-174724918-C-T
• gnomAD v4: 5-174724918-C-T
• MyVariant Identifiers: chr5:g.174151921C>T (hg19) ; chr5:g.174724918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724918C>T , CM000667.2:g.174724918C>T	GRCh38
NC_000005.9:g.174151921C>T , CM000667.1:g.174151921C>T	GRCh37
NC_000005.8:g.174084527C>T	NCBI36
NG_008124.1:g.5347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.259C>T MANE Select	ENSP00000239243.5:p.Arg87Trp
ENST00000239243.6:c.259C>T	ENSP00000239243.5:p.Arg87Trp
ENST00000507785.2:c.259C>T	ENSP00000427425.1:p.Arg87Trp
NM_002449.4:c.259C>T	NP_002440.2:p.Arg87Trp
NM_001363626.1:c.259C>T	NP_001350555.1:p.Arg87Trp
NM_002449.5:c.259C>T MANE Select	NP_002440.2:p.Arg87Trp
NM_001363626.2:c.259C>T	NP_001350555.1:p.Arg87Trp