Canonical Allele Identifier: CA679634008

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1450102618
• gnomAD v3: 11-68933730-G-C
• gnomAD v4: 11-68933730-G-C
• MyVariant Identifiers: chr11:g.68701198G>C (hg19) ; chr11:g.68933730G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933730G>C , CM000673.2:g.68933730G>C	GRCh38
NC_000011.9:g.68701198G>C , CM000673.1:g.68701198G>C	GRCh37
NC_000011.8:g.68457774G>C	NCBI36
NG_007976.1:g.34880G>C , LRG_250:g.34880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1419-65G>C MANE Select	ENSP00000255078.4:n.1419-65G>C
ENST00000674955.1:c.*136-65G>C	ENSP00000502463.1:n.*136-65G>C
ENST00000675118.1:c.907-65G>C
ENST00000675205.1:n.183+249G>C
ENST00000675615.1:c.1419-65G>C	ENSP00000502413.1:n.1419-65G>C
ENST00000675648.1:n.794-65G>C
ENST00000675997.1:n.113-734G>C
ENST00000676173.1:n.2164-65G>C
ENST00000676228.1:c.*742-65G>C	ENSP00000502375.1:n.*742-65G>C
ENST00000255078.7:c.1419-65G>C	ENSP00000255078.3:n.1419-65G>C
ENST00000537458.5:n.536-65G>C
ENST00000539064.5:n.1178-65G>C
ENST00000541229.5:n.49G>C
ENST00000543739.5:n.536-65G>C
NM_002180.2:c.1419-65G>C , LRG_250t1:c.1419-65G>C	NP_002171.2:n.1419-65G>C
XM_005273974.2:c.408-65G>C	XP_005274031.1:n.408-65G>C
XM_005273975.2:c.291-65G>C	XP_005274032.1:n.291-65G>C
XM_011544994.1:c.186-65G>C	XP_011543296.1:n.186-65G>C
XR_949903.1:n.1521-65G>C
XM_005273975.3:c.291-65G>C	XP_005274032.1:n.291-65G>C
XM_017017669.2:c.408-65G>C	XP_016873158.1:n.408-65G>C
XM_017017670.2:c.408-65G>C	XP_016873159.1:n.408-65G>C
XM_017017671.2:c.1419-65G>C	XP_016873160.1:n.1419-65G>C
XR_949903.3:n.1517-65G>C
NM_002180.3:c.1419-65G>C MANE Select	NP_002171.2:n.1419-65G>C