Canonical Allele Identifier: CA599989558

Gene: IGHMBP2

Linked Data

• gnomAD v2: 11-68682677-TGC-T
• gnomAD v3: 11-68915209-TGC-T
• gnomAD v4: 11-68915209-TGC-T
• MyVariant Identifiers: chr11:g.68682678_68682679del (hg19) ; chr11:g.68915210_68915211del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915210_68915211del , CM000673.2:g.68915210_68915211del	GRCh38
NC_000011.9:g.68682678_68682679del , CM000673.1:g.68682678_68682679del	GRCh37
NC_000011.8:g.68439254_68439255del	NCBI36
NG_007976.1:g.16360_16361del , LRG_250:g.16360_16361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+187_912+188del MANE Select	ENSP00000255078.4:n.912+187_912+188del
ENST00000539224.2:c.1041+187_1041+188del
ENST00000674955.1:c.912+187_912+188del	ENSP00000502463.1:n.912+187_912+188del
ENST00000675118.1:c.259+187_259+188del
ENST00000675119.1:c.201+187_201+188del	ENSP00000501861.1:n.201+187_201+188del
ENST00000675305.1:c.201+187_201+188del	ENSP00000502365.1:n.201+187_201+188del
ENST00000675464.1:c.195+193_195+194del	ENSP00000502650.1:n.195+193_195+194del
ENST00000675615.1:c.912+187_912+188del	ENSP00000502413.1:n.912+187_912+188del
ENST00000675683.1:c.299+187_299+188del
ENST00000676173.1:n.956+187_956+188del
ENST00000676228.1:c.*235+187_*235+188del	ENSP00000502375.1:n.*235+187_*235+188del
ENST00000255078.7:c.912+187_912+188del	ENSP00000255078.3:n.912+187_912+188del
NM_002180.2:c.912+187_912+188del , LRG_250t1:c.912+187_912+188del	NP_002171.2:n.912+187_912+188del
XM_005273974.2:c.-100+187_-100+188del	XP_005274031.1:n.-100+187_-100+188del
XM_005273976.1:c.912+187_912+188del	XP_005274033.1:n.912+187_912+188del
XR_247198.1:n.1014+187_1014+188del
XR_949903.1:n.1014+187_1014+188del
XM_005273976.2:c.912+187_912+188del	XP_005274033.1:n.912+187_912+188del
XM_017017669.2:c.-100+187_-100+188del	XP_016873158.1:n.-100+187_-100+188del
XM_017017670.2:c.-100+187_-100+188del	XP_016873159.1:n.-100+187_-100+188del
XM_017017671.2:c.912+187_912+188del	XP_016873160.1:n.912+187_912+188del
XR_949903.3:n.1010+187_1010+188del
NM_002180.3:c.912+187_912+188del MANE Select	NP_002171.2:n.912+187_912+188del