Canonical Allele Identifier: CA564905547

Gene: MSX2

Linked Data

• dbSNP Id: rs1359789304
• gnomAD v2: 5-174151585-G-A
• gnomAD v3: 5-174724582-G-A
• gnomAD v4: 5-174724582-G-A
• MyVariant Identifiers: chr5:g.174151585G>A (hg19) ; chr5:g.174724582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724582G>A , CM000667.2:g.174724582G>A	GRCh38
NC_000005.9:g.174151585G>A , CM000667.1:g.174151585G>A	GRCh37
NC_000005.8:g.174084191G>A	NCBI36
NG_008124.1:g.5011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.-78G>A MANE Select	ENSP00000239243.5:n.-78G>A
ENST00000239243.6:c.-78G>A	ENSP00000239243.5:n.-78G>A
NM_002449.4:c.-78G>A	NP_002440.2:n.-78G>A
NM_001363626.1:c.-78G>A	NP_001350555.1:n.-78G>A
NM_002449.5:c.-78G>A MANE Select	NP_002440.2:n.-78G>A
NM_001363626.2:c.-78G>A	NP_001350555.1:n.-78G>A