Canonical Allele Identifier: CA2614746324

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68915166-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915196_68915197insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915196_68915197insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.68682664_68682665insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682664_68682665insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.68439240_68439241insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_007976.1:g.16346_16347insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_250:g.16346_16347insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000255078.4:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTT...
ENST00000539224.2:c.1041+173_1041+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000674955.1:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502463.1:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTT...
ENST00000675118.1:c.259+173_259+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000675119.1:c.201+173_201+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000501861.1:n.201+173_201+174insTGTTTTTTTTTTTTTTTTTTTTT...
ENST00000675305.1:c.201+173_201+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502365.1:n.201+173_201+174insTGTTTTTTTTTTTTTTTTTTTTT...
ENST00000675464.1:c.195+179_195+180insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502650.1:n.195+179_195+180insTGTTTTTTTTTTTTTTTTTTTTT...
ENST00000675615.1:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502413.1:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTT...
ENST00000675683.1:c.299+173_299+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000676173.1:n.956+173_956+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000676228.1:c.*235+173_*235+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502375.1:n.*235+173_*235+174insTGTTTTTTTTTTTTTTTTTTT...
ENST00000255078.7:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000255078.3:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTT...
NM_002180.2:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_250t1:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_002171.2:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005273974.2:c.-100+173_-100+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274031.1:n.-100+173_-100+174insTGTTTTTTTTTTTTTTTTTTTTTT...
XM_005273976.1:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTT...
XR_247198.1:n.1014+173_1014+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_949903.1:n.1014+173_1014+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005273976.2:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017669.2:c.-100+173_-100+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873158.1:n.-100+173_-100+174insTGTTTTTTTTTTTTTTTTTTTTTT...
XM_017017670.2:c.-100+173_-100+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873159.1:n.-100+173_-100+174insTGTTTTTTTTTTTTTTTTTTTTTT...
XM_017017671.2:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873160.1:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTT...
XR_949903.3:n.1010+173_1010+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_002180.3:c.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_002171.2:n.912+173_912+174insTGTTTTTTTTTTTTTTTTTTTTTTTTTTT...