Canonical Allele Identifier: CA6153869

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs765654783
• ExAC: 11:68704208 GACAGGCTGCGGGTCC / G
• gnomAD v2: 11-68704208-GACAGGCTGCGGGTCC-G
• gnomAD v4: 11-68936740-GACAGGCTGCGGGTCC-G
• MyVariant Identifiers: chr11:g.68704209_68704223del (hg19) ; chr11:g.68936741_68936755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936743_68936757del , CM000673.2:g.68936743_68936757del	GRCh38
NC_000011.9:g.68704211_68704225del , CM000673.1:g.68704211_68704225del	GRCh37
NC_000011.8:g.68460787_68460801del	NCBI36
NG_007976.1:g.37893_37907del , LRG_250:g.37893_37907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2263_2277del MANE Select	ENSP00000255078.4:p.Arg755_His759del
ENST00000674675.1:c.507_521del
ENST00000674878.1:c.507_521del
ENST00000674955.1:c.*980_*994del	ENSP00000502463.1:n.*980_*994del
ENST00000675118.1:c.1751_1765del
ENST00000675389.1:n.538_552del
ENST00000675615.1:c.2263_2277del	ENSP00000502413.1:p.Arg755_His759del
ENST00000675648.1:n.1638_1652del
ENST00000675916.1:c.507_521del
ENST00000676173.1:n.3008_3022del
ENST00000676182.1:c.694_708del
ENST00000676228.1:c.*1586_*1600del	ENSP00000502375.1:n.*1586_*1600del
ENST00000255078.7:c.2263_2277del	ENSP00000255078.3:p.Arg755_His759del
ENST00000539064.5:n.2022_2036del
ENST00000543739.5:n.1256_1270del
NM_002180.2:c.2263_2277del , LRG_250t1:c.2263_2277del	NP_002171.2:p.Arg755_His759del
XM_005273974.2:c.1252_1266del	XP_005274031.1:p.Arg418_His422del
XM_005273975.2:c.1135_1149del	XP_005274032.1:p.Arg379_His383del
XM_011544994.1:c.1030_1044del	XP_011543296.1:p.Arg344_His348del
XR_949903.1:n.2365_2379del
XM_005273975.3:c.1135_1149del	XP_005274032.1:p.Arg379_His383del
XM_017017669.2:c.1252_1266del	XP_016873158.1:p.Arg418_His422del
XM_017017670.2:c.1252_1266del	XP_016873159.1:p.Arg418_His422del
XR_949903.3:n.2361_2375del
NM_002180.3:c.2263_2277del MANE Select	NP_002171.2:p.Arg755_His759del