Canonical Allele Identifier: CA2614746244

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68915165-C-CTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915165_68915166insTTTTTTT , CM000673.2:g.68915165_68915166insTTTTTTT	GRCh38
NC_000011.9:g.68682633_68682634insTTTTTTT , CM000673.1:g.68682633_68682634insTTTTTTT	GRCh37
NC_000011.8:g.68439209_68439210insTTTTTTT	NCBI36
NG_007976.1:g.16315_16316insTTTTTTT , LRG_250:g.16315_16316insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+142_912+143insTTTTTTT MANE Select	ENSP00000255078.4:n.912+142_912+143insTTTTTTT
ENST00000539224.2:c.1041+142_1041+143insTTTTTTT
ENST00000674955.1:c.912+142_912+143insTTTTTTT	ENSP00000502463.1:n.912+142_912+143insTTTTTTT
ENST00000675118.1:c.259+142_259+143insTTTTTTT
ENST00000675119.1:c.201+142_201+143insTTTTTTT	ENSP00000501861.1:n.201+142_201+143insTTTTTTT
ENST00000675305.1:c.201+142_201+143insTTTTTTT	ENSP00000502365.1:n.201+142_201+143insTTTTTTT
ENST00000675464.1:c.195+148_195+149insTTTTTTT	ENSP00000502650.1:n.195+148_195+149insTTTTTTT
ENST00000675615.1:c.912+142_912+143insTTTTTTT	ENSP00000502413.1:n.912+142_912+143insTTTTTTT
ENST00000675683.1:c.299+142_299+143insTTTTTTT
ENST00000676173.1:n.956+142_956+143insTTTTTTT
ENST00000676228.1:c.*235+142_*235+143insTTTTTTT	ENSP00000502375.1:n.*235+142_*235+143insTTTTTTT
ENST00000255078.7:c.912+142_912+143insTTTTTTT	ENSP00000255078.3:n.912+142_912+143insTTTTTTT
NM_002180.2:c.912+142_912+143insTTTTTTT , LRG_250t1:c.912+142_912+143insTTTTTTT	NP_002171.2:n.912+142_912+143insTTTTTTT
XM_005273974.2:c.-100+142_-100+143insTTTTTTT	XP_005274031.1:n.-100+142_-100+143insTTTTTTT
XM_005273976.1:c.912+142_912+143insTTTTTTT	XP_005274033.1:n.912+142_912+143insTTTTTTT
XR_247198.1:n.1014+142_1014+143insTTTTTTT
XR_949903.1:n.1014+142_1014+143insTTTTTTT
XM_005273976.2:c.912+142_912+143insTTTTTTT	XP_005274033.1:n.912+142_912+143insTTTTTTT
XM_017017669.2:c.-100+142_-100+143insTTTTTTT	XP_016873158.1:n.-100+142_-100+143insTTTTTTT
XM_017017670.2:c.-100+142_-100+143insTTTTTTT	XP_016873159.1:n.-100+142_-100+143insTTTTTTT
XM_017017671.2:c.912+142_912+143insTTTTTTT	XP_016873160.1:n.912+142_912+143insTTTTTTT
XR_949903.3:n.1010+142_1010+143insTTTTTTT
NM_002180.3:c.912+142_912+143insTTTTTTT MANE Select	NP_002171.2:n.912+142_912+143insTTTTTTT