Canonical Allele Identifier: CA362228914
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2907304
ClinVar RCV Id: RCV003760429
dbSNP Id: rs1321728260
gnomAD v4: 5-174724661-T-C
MyVariant Identifiers: chr5:g.174151664T>C (hg19) chr5:g.174724661T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724661T>C , CM000667.2:g.174724661T>C GRCh38
NC_000005.9:g.174151664T>C , CM000667.1:g.174151664T>C GRCh37
NC_000005.8:g.174084270T>C NCBI36
NG_008124.1:g.5090T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.2T>C MANE Select ENSP00000239243.5:p.Met1Thr
ENST00000239243.6:c.2T>C ENSP00000239243.5:p.Met1Thr
ENST00000507785.2:c.2T>C ENSP00000427425.1:p.Met1Thr
NM_002449.4:c.2T>C NP_002440.2:p.Met1Thr
NM_001363626.1:c.2T>C NP_001350555.1:p.Met1Thr
NM_002449.5:c.2T>C MANE Select NP_002440.2:p.Met1Thr
NM_001363626.2:c.2T>C NP_001350555.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'