Canonical Allele Identifier: CA6153391

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs761191746
• ExAC: 11:68682340 G / T
• gnomAD v2: 11-68682340-G-T
• gnomAD v4: 11-68914872-G-T
• MyVariant Identifiers: chr11:g.68682340G>T (hg19) ; chr11:g.68914872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914872G>T , CM000673.2:g.68914872G>T	GRCh38
NC_000011.9:g.68682340G>T , CM000673.1:g.68682340G>T	GRCh37
NC_000011.8:g.68438916G>T	NCBI36
NG_007976.1:g.16022G>T , LRG_250:g.16022G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.761G>T MANE Select	ENSP00000255078.4:p.Arg254Leu
ENST00000539224.2:c.890G>T
ENST00000674955.1:c.761G>T	ENSP00000502463.1:p.Arg254Leu
ENST00000675118.1:c.108G>T
ENST00000675119.1:c.50G>T	ENSP00000501861.1:p.Arg17Leu
ENST00000675305.1:c.50G>T	ENSP00000502365.1:p.Arg17Leu
ENST00000675464.1:c.50G>T	ENSP00000502650.1:p.Arg17Leu
ENST00000675615.1:c.761G>T	ENSP00000502413.1:p.Arg254Leu
ENST00000675683.1:c.148G>T
ENST00000676173.1:n.805G>T
ENST00000676228.1:c.*84G>T	ENSP00000502375.1:n.*84G>T
ENST00000676239.1:n.75G>T
ENST00000255078.7:c.761G>T	ENSP00000255078.3:p.Arg254Leu
ENST00000539224.1:c.*84G>T	ENSP00000440465.1:n.*84G>T
NM_002180.2:c.761G>T , LRG_250t1:c.761G>T	NP_002171.2:p.Arg254Leu
XM_005273974.2:c.-251G>T	XP_005274031.1:n.-251G>T
XM_005273976.1:c.761G>T	XP_005274033.1:p.Arg254Leu
XR_247198.1:n.863G>T
XR_949903.1:n.863G>T
XM_005273976.2:c.761G>T	XP_005274033.1:p.Arg254Leu
XM_017017669.2:c.-251G>T	XP_016873158.1:n.-251G>T
XM_017017670.2:c.-251G>T	XP_016873159.1:n.-251G>T
XM_017017671.2:c.761G>T	XP_016873160.1:p.Arg254Leu
XR_949903.3:n.859G>T
NM_002180.3:c.761G>T MANE Select	NP_002171.2:p.Arg254Leu