Canonical Allele Identifier: CA381653128

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936728-C-T
• MyVariant Identifiers: chr11:g.68704196C>T (hg19) ; chr11:g.68936728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936728C>T , CM000673.2:g.68936728C>T	GRCh38
NC_000011.9:g.68704196C>T , CM000673.1:g.68704196C>T	GRCh37
NC_000011.8:g.68460772C>T	NCBI36
NG_007976.1:g.37878C>T , LRG_250:g.37878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2248C>T MANE Select	ENSP00000255078.4:p.Leu750Phe
ENST00000674675.1:c.492C>T
ENST00000674878.1:c.492C>T
ENST00000674955.1:c.*965C>T	ENSP00000502463.1:n.*965C>T
ENST00000675118.1:c.1736C>T
ENST00000675389.1:n.523C>T
ENST00000675615.1:c.2248C>T	ENSP00000502413.1:p.Leu750Phe
ENST00000675648.1:n.1623C>T
ENST00000675916.1:c.492C>T
ENST00000676173.1:n.2993C>T
ENST00000676182.1:c.679C>T
ENST00000676228.1:c.*1571C>T	ENSP00000502375.1:n.*1571C>T
ENST00000255078.7:c.2248C>T	ENSP00000255078.3:p.Leu750Phe
ENST00000539064.5:n.2007C>T
ENST00000543739.5:n.1241C>T
NM_002180.2:c.2248C>T , LRG_250t1:c.2248C>T	NP_002171.2:p.Leu750Phe
XM_005273974.2:c.1237C>T	XP_005274031.1:p.Leu413Phe
XM_005273975.2:c.1120C>T	XP_005274032.1:p.Leu374Phe
XM_011544994.1:c.1015C>T	XP_011543296.1:p.Leu339Phe
XR_949903.1:n.2350C>T
XM_005273975.3:c.1120C>T	XP_005274032.1:p.Leu374Phe
XM_017017669.2:c.1237C>T	XP_016873158.1:p.Leu413Phe
XM_017017670.2:c.1237C>T	XP_016873159.1:p.Leu413Phe
XR_949903.3:n.2346C>T
NM_002180.3:c.2248C>T MANE Select	NP_002171.2:p.Leu750Phe