Canonical Allele Identifier: CA381651655
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1594455498

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936309T>G , CM000673.2:g.68936309T>G GRCh38
NC_000011.9:g.68703777T>G , CM000673.1:g.68703777T>G GRCh37
NC_000011.8:g.68460353T>G NCBI36
NG_007976.1:g.37459T>G , LRG_250:g.37459T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1829T>G MANE Select ENSP00000255078.4:p.Val610Gly
ENST00000674675.1:c.73T>G
ENST00000674878.1:c.73T>G
ENST00000674955.1:c.*546T>G ENSP00000502463.1:n.*546T>G
ENST00000675118.1:c.1317T>G
ENST00000675389.1:n.104T>G
ENST00000675615.1:c.1829T>G ENSP00000502413.1:p.Val610Gly
ENST00000675648.1:n.1204T>G
ENST00000675916.1:c.73T>G
ENST00000676173.1:n.2574T>G
ENST00000676182.1:c.260T>G
ENST00000676228.1:c.*1152T>G ENSP00000502375.1:n.*1152T>G
ENST00000255078.7:c.1829T>G ENSP00000255078.3:p.Val610Gly
ENST00000539064.5:n.1588T>G
ENST00000541229.5:n.524T>G
ENST00000543739.5:n.822T>G
ENST00000545475.1:n.425T>G
NM_002180.2:c.1829T>G , LRG_250t1:c.1829T>G NP_002171.2:p.Val610Gly
XM_005273974.2:c.818T>G XP_005274031.1:p.Val273Gly
XM_005273975.2:c.701T>G XP_005274032.1:p.Val234Gly
XM_011544994.1:c.596T>G XP_011543296.1:p.Val199Gly
XR_949903.1:n.1931T>G
XM_005273975.3:c.701T>G XP_005274032.1:p.Val234Gly
XM_017017669.2:c.818T>G XP_016873158.1:p.Val273Gly
XM_017017670.2:c.818T>G XP_016873159.1:p.Val273Gly
XR_949903.3:n.1927T>G
NM_002180.3:c.1829T>G MANE Select NP_002171.2:p.Val610Gly