Canonical Allele Identifier: CA132700886

Gene: MSX2

Linked Data

• dbSNP Id: rs749151467
• gnomAD v2: 5-174151596-G-GT
• gnomAD v3: 5-174724593-G-GT
• gnomAD v4: 5-174724593-G-GT
• MyVariant Identifiers: chr5:g.174151596_174151597insT (hg19) ; chr5:g.174724593_174724594insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724596dup , CM000667.2:g.174724596dup	GRCh38
NC_000005.9:g.174151599dup , CM000667.1:g.174151599dup	GRCh37
NC_000005.8:g.174084205dup	NCBI36
NG_008124.1:g.5025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.-64dup MANE Select	ENSP00000239243.5:n.-64dup
ENST00000239243.6:c.-64dup	ENSP00000239243.5:n.-64dup
NM_002449.4:c.-64dup	NP_002440.2:n.-64dup
NM_001363626.1:c.-64dup	NP_001350555.1:n.-64dup
NM_002449.5:c.-64dup MANE Select	NP_002440.2:n.-64dup
NM_001363626.2:c.-64dup	NP_001350555.1:n.-64dup