Canonical Allele Identifier: CA381653041
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936691G>A , CM000673.2:g.68936691G>A GRCh38
NC_000011.9:g.68704159G>A , CM000673.1:g.68704159G>A GRCh37
NC_000011.8:g.68460735G>A NCBI36
NG_007976.1:g.37841G>A , LRG_250:g.37841G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2211G>A MANE Select ENSP00000255078.4:p.Met737Ile
ENST00000674675.1:c.455G>A
ENST00000674878.1:c.455G>A
ENST00000674955.1:c.*928G>A ENSP00000502463.1:n.*928G>A
ENST00000675118.1:c.1699G>A
ENST00000675389.1:n.486G>A
ENST00000675615.1:c.2211G>A ENSP00000502413.1:p.Met737Ile
ENST00000675648.1:n.1586G>A
ENST00000675916.1:c.455G>A
ENST00000676173.1:n.2956G>A
ENST00000676182.1:c.642G>A
ENST00000676228.1:c.*1534G>A ENSP00000502375.1:n.*1534G>A
ENST00000255078.7:c.2211G>A ENSP00000255078.3:p.Met737Ile
ENST00000539064.5:n.1970G>A
ENST00000543739.5:n.1204G>A
NM_002180.2:c.2211G>A , LRG_250t1:c.2211G>A NP_002171.2:p.Met737Ile
XM_005273974.2:c.1200G>A XP_005274031.1:p.Met400Ile
XM_005273975.2:c.1083G>A XP_005274032.1:p.Met361Ile
XM_011544994.1:c.978G>A XP_011543296.1:p.Met326Ile
XR_949903.1:n.2313G>A
XM_005273975.3:c.1083G>A XP_005274032.1:p.Met361Ile
XM_017017669.2:c.1200G>A XP_016873158.1:p.Met400Ile
XM_017017670.2:c.1200G>A XP_016873159.1:p.Met400Ile
XR_949903.3:n.2309G>A
NM_002180.3:c.2211G>A MANE Select NP_002171.2:p.Met737Ile