Canonical Allele Identifier: CA3565165

Gene: MSX2

Linked Data

• dbSNP Id: rs745346979
• ExAC: 5:174152089 G / A
• gnomAD v2: 5-174152089-G-A
• gnomAD v4: 5-174725086-G-A
• MyVariant Identifiers: chr5:g.174152089G>A (hg19) ; chr5:g.174725086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725086G>A , CM000667.2:g.174725086G>A	GRCh38
NC_000005.9:g.174152089G>A , CM000667.1:g.174152089G>A	GRCh37
NC_000005.8:g.174084695G>A	NCBI36
NG_008124.1:g.5515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+48G>A MANE Select	ENSP00000239243.5:n.379+48G>A
ENST00000239243.6:c.379+48G>A	ENSP00000239243.5:n.379+48G>A
ENST00000507785.2:c.*3+19G>A	ENSP00000427425.1:n.*3+19G>A
NM_002449.4:c.379+48G>A	NP_002440.2:n.379+48G>A
NM_001363626.1:c.*3+19G>A	NP_001350555.1:n.*3+19G>A
NM_002449.5:c.379+48G>A MANE Select	NP_002440.2:n.379+48G>A
NM_001363626.2:c.*3+19G>A	NP_001350555.1:n.*3+19G>A