Canonical Allele Identifier: CA2614749312

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933583-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933583A>G , CM000673.2:g.68933583A>G	GRCh38
NC_000011.9:g.68701051A>G , CM000673.1:g.68701051A>G	GRCh37
NC_000011.8:g.68457627A>G	NCBI36
NG_007976.1:g.34733A>G , LRG_250:g.34733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418+102A>G MANE Select	ENSP00000255078.4:n.1418+102A>G
ENST00000674955.1:c.*135+102A>G	ENSP00000502463.1:n.*135+102A>G
ENST00000675118.1:c.906+102A>G
ENST00000675205.1:n.183+102A>G
ENST00000675615.1:c.1418+102A>G	ENSP00000502413.1:n.1418+102A>G
ENST00000675648.1:n.793+102A>G
ENST00000675997.1:n.113-881A>G
ENST00000676173.1:n.2163+102A>G
ENST00000676228.1:c.*741+102A>G	ENSP00000502375.1:n.*741+102A>G
ENST00000255078.7:c.1418+102A>G	ENSP00000255078.3:n.1418+102A>G
ENST00000537458.5:n.535+102A>G
ENST00000539064.5:n.1177+102A>G
ENST00000543739.5:n.535+102A>G
NM_002180.2:c.1418+102A>G , LRG_250t1:c.1418+102A>G	NP_002171.2:n.1418+102A>G
XM_005273974.2:c.407+102A>G	XP_005274031.1:n.407+102A>G
XM_005273975.2:c.290+102A>G	XP_005274032.1:n.290+102A>G
XM_011544994.1:c.185+102A>G	XP_011543296.1:n.185+102A>G
XR_949903.1:n.1520+102A>G
XM_005273975.3:c.290+102A>G	XP_005274032.1:n.290+102A>G
XM_017017669.2:c.407+102A>G	XP_016873158.1:n.407+102A>G
XM_017017670.2:c.407+102A>G	XP_016873159.1:n.407+102A>G
XM_017017671.2:c.1418+102A>G	XP_016873160.1:n.1418+102A>G
XR_949903.3:n.1516+102A>G
NM_002180.3:c.1418+102A>G MANE Select	NP_002171.2:n.1418+102A>G