Canonical Allele Identifier: CA3565074

Gene: MSX2

Linked Data

• ClinVar Variation Id: 352835
• ClinVar RCV Id: RCV000264746 ; RCV000359264
• dbSNP Id: rs758437365
• ExAC: 5:174151621 C / T
• gnomAD v2: 5-174151621-C-T
• gnomAD v3: 5-174724618-C-T
• gnomAD v4: 5-174724618-C-T
• MyVariant Identifiers: chr5:g.174151621C>T (hg19) ; chr5:g.174724618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724618C>T , CM000667.2:g.174724618C>T	GRCh38
NC_000005.9:g.174151621C>T , CM000667.1:g.174151621C>T	GRCh37
NC_000005.8:g.174084227C>T	NCBI36
NG_008124.1:g.5047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.-42C>T MANE Select	ENSP00000239243.5:n.-42C>T
ENST00000239243.6:c.-42C>T	ENSP00000239243.5:n.-42C>T
ENST00000507785.2:c.-42C>T	ENSP00000427425.1:n.-42C>T
NM_002449.4:c.-42C>T	NP_002440.2:n.-42C>T
NM_001363626.1:c.-42C>T	NP_001350555.1:n.-42C>T
NM_002449.5:c.-42C>T MANE Select	NP_002440.2:n.-42C>T
NM_001363626.2:c.-42C>T	NP_001350555.1:n.-42C>T