Canonical Allele Identifier: CA381643314
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908297T>A , CM000673.2:g.68908297T>A GRCh38
NC_000011.9:g.68675765T>A , CM000673.1:g.68675765T>A GRCh37
NC_000011.8:g.68432341T>A NCBI36
NG_007976.1:g.9447T>A , LRG_250:g.9447T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.409T>A MANE Select ENSP00000255078.4:p.Leu137Ile
ENST00000539224.2:c.372T>A
ENST00000674583.1:c.372T>A
ENST00000674597.1:c.220T>A
ENST00000674955.1:c.409T>A ENSP00000502463.1:p.Leu137Ile
ENST00000675142.1:n.372T>A
ENST00000675469.1:c.285T>A
ENST00000675615.1:c.409T>A ENSP00000502413.1:p.Leu137Ile
ENST00000675674.1:n.372T>A
ENST00000675873.1:c.372T>A
ENST00000676173.1:n.453T>A
ENST00000676228.1:c.409T>A ENSP00000502375.1:p.Leu137Ile
ENST00000255078.7:c.409T>A ENSP00000255078.3:p.Leu137Ile
ENST00000539224.1:c.409T>A ENSP00000440465.1:p.Leu137Ile
ENST00000544541.1:c.*149T>A ENSP00000443343.1:n.*149T>A
NM_002180.2:c.409T>A , LRG_250t1:c.409T>A NP_002171.2:p.Leu137Ile
XM_005273974.2:c.-603T>A XP_005274031.1:n.-603T>A
XM_005273976.1:c.409T>A XP_005274033.1:p.Leu137Ile
XR_247198.1:n.511T>A
XR_949903.1:n.511T>A
XM_005273976.2:c.409T>A XP_005274033.1:p.Leu137Ile
XM_017017669.2:c.-505T>A XP_016873158.1:n.-505T>A
XM_017017671.2:c.409T>A XP_016873160.1:p.Leu137Ile
XR_949903.3:n.507T>A
NM_002180.3:c.409T>A MANE Select NP_002171.2:p.Leu137Ile