Canonical Allele Identifier: CA132700881
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs915822699
gnomAD v2: 5-174151586-C-G
gnomAD v3: 5-174724583-C-G
gnomAD v4: 5-174724583-C-G
MyVariant Identifiers: chr5:g.174151586C>G (hg19) chr5:g.174724583C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724583C>G , CM000667.2:g.174724583C>G GRCh38
NC_000005.9:g.174151586C>G , CM000667.1:g.174151586C>G GRCh37
NC_000005.8:g.174084192C>G NCBI36
NG_008124.1:g.5012C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-77C>G MANE Select ENSP00000239243.5:n.-77C>G
ENST00000239243.6:c.-77C>G ENSP00000239243.5:n.-77C>G
NM_002449.4:c.-77C>G NP_002440.2:n.-77C>G
NM_001363626.1:c.-77C>G NP_001350555.1:n.-77C>G
NM_002449.5:c.-77C>G MANE Select NP_002440.2:n.-77C>G
NM_001363626.2:c.-77C>G NP_001350555.1:n.-77C>G
Search 100 bp 5'
Search 100 bp 3'