Canonical Allele Identifier: CA6153806
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs776053148

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936395G>A , CM000673.2:g.68936395G>A GRCh38
NC_000011.9:g.68703863G>A , CM000673.1:g.68703863G>A GRCh37
NC_000011.8:g.68460439G>A NCBI36
NG_007976.1:g.37545G>A , LRG_250:g.37545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1915G>A MANE Select ENSP00000255078.4:p.Ala639Thr
ENST00000674675.1:c.159G>A
ENST00000674878.1:c.159G>A
ENST00000674955.1:c.*632G>A ENSP00000502463.1:n.*632G>A
ENST00000675118.1:c.1403G>A
ENST00000675389.1:n.190G>A
ENST00000675615.1:c.1915G>A ENSP00000502413.1:p.Ala639Thr
ENST00000675648.1:n.1290G>A
ENST00000675916.1:c.159G>A
ENST00000676173.1:n.2660G>A
ENST00000676182.1:c.346G>A
ENST00000676228.1:c.*1238G>A ENSP00000502375.1:n.*1238G>A
ENST00000255078.7:c.1915G>A ENSP00000255078.3:p.Ala639Thr
ENST00000539064.5:n.1674G>A
ENST00000543739.5:n.908G>A
ENST00000545475.1:n.511G>A
NM_002180.2:c.1915G>A , LRG_250t1:c.1915G>A NP_002171.2:p.Ala639Thr
XM_005273974.2:c.904G>A XP_005274031.1:p.Ala302Thr
XM_005273975.2:c.787G>A XP_005274032.1:p.Ala263Thr
XM_011544994.1:c.682G>A XP_011543296.1:p.Ala228Thr
XR_949903.1:n.2017G>A
XM_005273975.3:c.787G>A XP_005274032.1:p.Ala263Thr
XM_017017669.2:c.904G>A XP_016873158.1:p.Ala302Thr
XM_017017670.2:c.904G>A XP_016873159.1:p.Ala302Thr
XR_949903.3:n.2013G>A
NM_002180.3:c.1915G>A MANE Select NP_002171.2:p.Ala639Thr