Canonical Allele Identifier: CA223408761

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1030971777
• gnomAD v2: 11-68701021-G-A
• gnomAD v3: 11-68933553-G-A
• gnomAD v4: 11-68933553-G-A
• MyVariant Identifiers: chr11:g.68701021G>A (hg19) ; chr11:g.68933553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933553G>A , CM000673.2:g.68933553G>A	GRCh38
NC_000011.9:g.68701021G>A , CM000673.1:g.68701021G>A	GRCh37
NC_000011.8:g.68457597G>A	NCBI36
NG_007976.1:g.34703G>A , LRG_250:g.34703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418+72G>A MANE Select	ENSP00000255078.4:n.1418+72G>A
ENST00000674955.1:c.*135+72G>A	ENSP00000502463.1:n.*135+72G>A
ENST00000675118.1:c.906+72G>A
ENST00000675205.1:n.183+72G>A
ENST00000675615.1:c.1418+72G>A	ENSP00000502413.1:n.1418+72G>A
ENST00000675648.1:n.793+72G>A
ENST00000675997.1:n.113-911G>A
ENST00000676173.1:n.2163+72G>A
ENST00000676228.1:c.*741+72G>A	ENSP00000502375.1:n.*741+72G>A
ENST00000255078.7:c.1418+72G>A	ENSP00000255078.3:n.1418+72G>A
ENST00000537458.5:n.535+72G>A
ENST00000539064.5:n.1177+72G>A
ENST00000543739.5:n.535+72G>A
NM_002180.2:c.1418+72G>A , LRG_250t1:c.1418+72G>A	NP_002171.2:n.1418+72G>A
XM_005273974.2:c.407+72G>A	XP_005274031.1:n.407+72G>A
XM_005273975.2:c.290+72G>A	XP_005274032.1:n.290+72G>A
XM_011544994.1:c.185+72G>A	XP_011543296.1:n.185+72G>A
XR_949903.1:n.1520+72G>A
XM_005273975.3:c.290+72G>A	XP_005274032.1:n.290+72G>A
XM_017017669.2:c.407+72G>A	XP_016873158.1:n.407+72G>A
XM_017017670.2:c.407+72G>A	XP_016873159.1:n.407+72G>A
XM_017017671.2:c.1418+72G>A	XP_016873160.1:n.1418+72G>A
XR_949903.3:n.1516+72G>A
NM_002180.3:c.1418+72G>A MANE Select	NP_002171.2:n.1418+72G>A