Canonical Allele Identifier: CA3565159

Gene: MSX2

Linked Data

• dbSNP Id: rs375515216
• ExAC: 5:174152075 C / A
• gnomAD v2: 5-174152075-C-A
• gnomAD v3: 5-174725072-C-A
• gnomAD v4: 5-174725072-C-A
• MyVariant Identifiers: chr5:g.174152075C>A (hg19) ; chr5:g.174725072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725072C>A , CM000667.2:g.174725072C>A	GRCh38
NC_000005.9:g.174152075C>A , CM000667.1:g.174152075C>A	GRCh37
NC_000005.8:g.174084681C>A	NCBI36
NG_008124.1:g.5501C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+34C>A MANE Select	ENSP00000239243.5:n.379+34C>A
ENST00000239243.6:c.379+34C>A	ENSP00000239243.5:n.379+34C>A
ENST00000507785.2:c.*3+5C>A	ENSP00000427425.1:n.*3+5C>A
NM_002449.4:c.379+34C>A	NP_002440.2:n.379+34C>A
NM_001363626.1:c.*3+5C>A	NP_001350555.1:n.*3+5C>A
NM_002449.5:c.379+34C>A MANE Select	NP_002440.2:n.379+34C>A
NM_001363626.2:c.*3+5C>A	NP_001350555.1:n.*3+5C>A