Canonical Allele Identifier: CA2614745813

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914880-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914884_68914885del , CM000673.2:g.68914884_68914885del	GRCh38
NC_000011.9:g.68682352_68682353del , CM000673.1:g.68682352_68682353del	GRCh37
NC_000011.8:g.68438928_68438929del	NCBI36
NG_007976.1:g.16034_16035del , LRG_250:g.16034_16035del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.773_774del MANE Select	ENSP00000255078.4:p.Cys258Ter
ENST00000539224.2:c.902_903del
ENST00000674955.1:c.773_774del	ENSP00000502463.1:p.Cys258Ter
ENST00000675118.1:c.120_121del
ENST00000675119.1:c.62_63del	ENSP00000501861.1:p.Cys21Ter
ENST00000675305.1:c.62_63del	ENSP00000502365.1:p.Cys21Ter
ENST00000675464.1:c.62_63del	ENSP00000502650.1:p.Cys21Ter
ENST00000675615.1:c.773_774del	ENSP00000502413.1:p.Cys258Ter
ENST00000675683.1:c.160_161del
ENST00000676173.1:n.817_818del
ENST00000676228.1:c.*96_*97del	ENSP00000502375.1:n.*96_*97del
ENST00000676239.1:n.87_88del
ENST00000255078.7:c.773_774del	ENSP00000255078.3:p.Cys258Ter
ENST00000539224.1:c.*96_*97del	ENSP00000440465.1:n.*96_*97del
NM_002180.2:c.773_774del , LRG_250t1:c.773_774del	NP_002171.2:p.Cys258Ter
XM_005273974.2:c.-239_-238del	XP_005274031.1:n.-239_-238del
XM_005273976.1:c.773_774del	XP_005274033.1:p.Cys258Ter
XR_247198.1:n.875_876del
XR_949903.1:n.875_876del
XM_005273976.2:c.773_774del	XP_005274033.1:p.Cys258Ter
XM_017017669.2:c.-239_-238del	XP_016873158.1:n.-239_-238del
XM_017017670.2:c.-239_-238del	XP_016873159.1:n.-239_-238del
XM_017017671.2:c.773_774del	XP_016873160.1:p.Cys258Ter
XR_949903.3:n.871_872del
NM_002180.3:c.773_774del MANE Select	NP_002171.2:p.Cys258Ter