Canonical Allele Identifier: CA939178843

Gene: IGHMBP2

Linked Data

• gnomAD v3: 11-68915211-C-CTTTTTTTTTTTTT
• gnomAD v4: 11-68915211-C-CTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915212_68915213insTTTTTTTTTTTTT , CM000673.2:g.68915212_68915213insTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.68682680_68682681insTTTTTTTTTTTTT , CM000673.1:g.68682680_68682681insTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.68439256_68439257insTTTTTTTTTTTTT	NCBI36
NG_007976.1:g.16362_16363insTTTTTTTTTTTTT , LRG_250:g.16362_16363insTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+189_912+190insTTTTTTTTTTTTT MANE Select	ENSP00000255078.4:n.912+189_912+190insTTTTTTTTTTTTT
ENST00000539224.2:c.1041+189_1041+190insTTTTTTTTTTTTT
ENST00000674955.1:c.912+189_912+190insTTTTTTTTTTTTT	ENSP00000502463.1:n.912+189_912+190insTTTTTTTTTTTTT
ENST00000675118.1:c.259+189_259+190insTTTTTTTTTTTTT
ENST00000675119.1:c.201+189_201+190insTTTTTTTTTTTTT	ENSP00000501861.1:n.201+189_201+190insTTTTTTTTTTTTT
ENST00000675305.1:c.201+189_201+190insTTTTTTTTTTTTT	ENSP00000502365.1:n.201+189_201+190insTTTTTTTTTTTTT
ENST00000675464.1:c.195+195_195+196insTTTTTTTTTTTTT	ENSP00000502650.1:n.195+195_195+196insTTTTTTTTTTTTT
ENST00000675615.1:c.912+189_912+190insTTTTTTTTTTTTT	ENSP00000502413.1:n.912+189_912+190insTTTTTTTTTTTTT
ENST00000675683.1:c.299+189_299+190insTTTTTTTTTTTTT
ENST00000676173.1:n.956+189_956+190insTTTTTTTTTTTTT
ENST00000676228.1:c.*235+189_*235+190insTTTTTTTTTTTTT	ENSP00000502375.1:n.*235+189_*235+190insTTTTTTTTTTTTT
ENST00000255078.7:c.912+189_912+190insTTTTTTTTTTTTT	ENSP00000255078.3:n.912+189_912+190insTTTTTTTTTTTTT
NM_002180.2:c.912+189_912+190insTTTTTTTTTTTTT , LRG_250t1:c.912+189_912+190insTTTTTTTTTTTTT	NP_002171.2:n.912+189_912+190insTTTTTTTTTTTTT
XM_005273974.2:c.-100+189_-100+190insTTTTTTTTTTTTT	XP_005274031.1:n.-100+189_-100+190insTTTTTTTTTTTTT
XM_005273976.1:c.912+189_912+190insTTTTTTTTTTTTT	XP_005274033.1:n.912+189_912+190insTTTTTTTTTTTTT
XR_247198.1:n.1014+189_1014+190insTTTTTTTTTTTTT
XR_949903.1:n.1014+189_1014+190insTTTTTTTTTTTTT
XM_005273976.2:c.912+189_912+190insTTTTTTTTTTTTT	XP_005274033.1:n.912+189_912+190insTTTTTTTTTTTTT
XM_017017669.2:c.-100+189_-100+190insTTTTTTTTTTTTT	XP_016873158.1:n.-100+189_-100+190insTTTTTTTTTTTTT
XM_017017670.2:c.-100+189_-100+190insTTTTTTTTTTTTT	XP_016873159.1:n.-100+189_-100+190insTTTTTTTTTTTTT
XM_017017671.2:c.912+189_912+190insTTTTTTTTTTTTT	XP_016873160.1:n.912+189_912+190insTTTTTTTTTTTTT
XR_949903.3:n.1010+189_1010+190insTTTTTTTTTTTTT
NM_002180.3:c.912+189_912+190insTTTTTTTTTTTTT MANE Select	NP_002171.2:n.912+189_912+190insTTTTTTTTTTTTT