Canonical Allele Identifier: CA362229719

Gene: MSX2

Linked Data

• gnomAD v4: 5-174725053-G-A
• MyVariant Identifiers: chr5:g.174152056G>A (hg19) ; chr5:g.174725053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725053G>A , CM000667.2:g.174725053G>A	GRCh38
NC_000005.9:g.174152056G>A , CM000667.1:g.174152056G>A	GRCh37
NC_000005.8:g.174084662G>A	NCBI36
NG_008124.1:g.5482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+15G>A MANE Select	ENSP00000239243.5:n.379+15G>A
ENST00000239243.6:c.379+15G>A	ENSP00000239243.5:n.379+15G>A
ENST00000507785.2:c.394G>A	ENSP00000427425.1:p.Gly132Arg
NM_002449.4:c.379+15G>A	NP_002440.2:n.379+15G>A
NM_001363626.1:c.394G>A	NP_001350555.1:p.Gly132Arg
NM_002449.5:c.379+15G>A MANE Select	NP_002440.2:n.379+15G>A
NM_001363626.2:c.394G>A	NP_001350555.1:p.Gly132Arg