Canonical Allele Identifier: CA939177978

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs199517937
• gnomAD v3: 11-68933485-A-C
• gnomAD v4: 11-68933485-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933485A>C , CM000673.2:g.68933485A>C	GRCh38
NC_000011.9:g.68700953A>C , CM000673.1:g.68700953A>C	GRCh37
NC_000011.8:g.68457529A>C	NCBI36
NG_007976.1:g.34635A>C , LRG_250:g.34635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418+4A>C MANE Select	ENSP00000255078.4:n.1418+4A>C
ENST00000674955.1:c.*135+4A>C	ENSP00000502463.1:n.*135+4A>C
ENST00000675118.1:c.906+4A>C
ENST00000675205.1:n.183+4A>C
ENST00000675615.1:c.1418+4A>C	ENSP00000502413.1:n.1418+4A>C
ENST00000675648.1:n.793+4A>C
ENST00000675997.1:n.113-979A>C
ENST00000676173.1:n.2163+4A>C
ENST00000676228.1:c.*741+4A>C	ENSP00000502375.1:n.*741+4A>C
ENST00000255078.7:c.1418+4A>C	ENSP00000255078.3:n.1418+4A>C
ENST00000537458.5:n.535+4A>C
ENST00000539064.5:n.1177+4A>C
ENST00000543739.5:n.535+4A>C
NM_002180.2:c.1418+4A>C , LRG_250t1:c.1418+4A>C	NP_002171.2:n.1418+4A>C
XM_005273974.2:c.407+4A>C	XP_005274031.1:n.407+4A>C
XM_005273975.2:c.290+4A>C	XP_005274032.1:n.290+4A>C
XM_011544994.1:c.185+4A>C	XP_011543296.1:n.185+4A>C
XR_949903.1:n.1520+4A>C
XM_005273975.3:c.290+4A>C	XP_005274032.1:n.290+4A>C
XM_017017669.2:c.407+4A>C	XP_016873158.1:n.407+4A>C
XM_017017670.2:c.407+4A>C	XP_016873159.1:n.407+4A>C
XM_017017671.2:c.1418+4A>C	XP_016873160.1:n.1418+4A>C
XR_949903.3:n.1516+4A>C
NM_002180.3:c.1418+4A>C MANE Select	NP_002171.2:n.1418+4A>C