Canonical Allele Identifier: CA6153858
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305850
dbSNP Id: rs750717921

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936674A>G , CM000673.2:g.68936674A>G GRCh38
NC_000011.9:g.68704142A>G , CM000673.1:g.68704142A>G GRCh37
NC_000011.8:g.68460718A>G NCBI36
NG_007976.1:g.37824A>G , LRG_250:g.37824A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2194A>G MANE Select ENSP00000255078.4:p.Met732Val
ENST00000674675.1:n.438A>G
ENST00000674878.1:n.438A>G
ENST00000674955.1:c.*911A>G ENSP00000502463.1:p.=
ENST00000675118.1:n.1682A>G
ENST00000675389.1:n.469A>G
ENST00000675615.1:c.2194A>G ENSP00000502413.1:p.Met732Val
ENST00000675648.1:n.1569A>G
ENST00000675916.1:n.438A>G
ENST00000676173.1:n.2939A>G
ENST00000676182.1:n.625A>G
ENST00000676228.1:c.*1517A>G ENSP00000502375.1:p.=
ENST00000255078.7:c.2194A>G ENSP00000255078.3:p.Met732Val
ENST00000539064.5:n.1953A>G
ENST00000543739.5:n.1187A>G
NM_002180.2:c.2194A>G , LRG_250t1:c.2194A>G NP_002171.2:p.Met732Val
XM_005273974.2:c.1183A>G XP_005274031.1:p.Met395Val
XM_005273975.2:c.1066A>G XP_005274032.1:p.Met356Val
XM_011544994.1:c.961A>G XP_011543296.1:p.Met321Val
XR_949903.1:n.2296A>G
XM_005273975.3:c.1066A>G XP_005274032.1:p.Met356Val
XM_017017669.2:c.1183A>G XP_016873158.1:p.Met395Val
XM_017017670.2:c.1183A>G XP_016873159.1:p.Met395Val
XR_949903.3:n.2292A>G
NM_002180.3:c.2194A>G MANE Select NP_002171.2:p.Met732Val