Canonical Allele Identifier: CA2676572775

Gene: MSX2

Linked Data

• gnomAD v4: 5-174725088-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725088G>T , CM000667.2:g.174725088G>T	GRCh38
NC_000005.9:g.174152091G>T , CM000667.1:g.174152091G>T	GRCh37
NC_000005.8:g.174084697G>T	NCBI36
NG_008124.1:g.5517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+50G>T MANE Select	ENSP00000239243.5:n.379+50G>T
ENST00000239243.6:c.379+50G>T	ENSP00000239243.5:n.379+50G>T
ENST00000507785.2:c.*3+21G>T	ENSP00000427425.1:n.*3+21G>T
NM_002449.4:c.379+50G>T	NP_002440.2:n.379+50G>T
NM_001363626.1:c.*3+21G>T	NP_001350555.1:n.*3+21G>T
NM_002449.5:c.379+50G>T MANE Select	NP_002440.2:n.379+50G>T
NM_001363626.2:c.*3+21G>T	NP_001350555.1:n.*3+21G>T