Canonical Allele Identifier: CA381644673
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68915021T>A , CM000673.2:g.68915021T>A GRCh38
NC_000011.9:g.68682489T>A , CM000673.1:g.68682489T>A GRCh37
NC_000011.8:g.68439065T>A NCBI36
NG_007976.1:g.16171T>A , LRG_250:g.16171T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.910T>A MANE Select ENSP00000255078.4:p.Phe304Ile
ENST00000539224.2:c.1039T>A
ENST00000674955.1:c.910T>A ENSP00000502463.1:p.Phe304Ile
ENST00000675118.1:c.257T>A
ENST00000675119.1:c.199T>A ENSP00000501861.1:p.Phe67Ile
ENST00000675305.1:c.199T>A ENSP00000502365.1:p.Phe67Ile
ENST00000675464.1:c.195+4T>A ENSP00000502650.1:n.195+4T>A
ENST00000675615.1:c.910T>A ENSP00000502413.1:p.Phe304Ile
ENST00000675683.1:c.297T>A
ENST00000676173.1:n.954T>A
ENST00000676228.1:c.*233T>A ENSP00000502375.1:n.*233T>A
ENST00000676239.1:n.224T>A
ENST00000255078.7:c.910T>A ENSP00000255078.3:p.Phe304Ile
NM_002180.2:c.910T>A , LRG_250t1:c.910T>A NP_002171.2:p.Phe304Ile
XM_005273974.2:c.-102T>A XP_005274031.1:n.-102T>A
XM_005273976.1:c.910T>A XP_005274033.1:p.Phe304Ile
XR_247198.1:n.1012T>A
XR_949903.1:n.1012T>A
XM_005273976.2:c.910T>A XP_005274033.1:p.Phe304Ile
XM_017017669.2:c.-102T>A XP_016873158.1:n.-102T>A
XM_017017670.2:c.-102T>A XP_016873159.1:n.-102T>A
XM_017017671.2:c.910T>A XP_016873160.1:p.Phe304Ile
XR_949903.3:n.1008T>A
NM_002180.3:c.910T>A MANE Select NP_002171.2:p.Phe304Ile