Canonical Allele Identifier: CA2614749469

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859408794
• gnomAD v4: 11-68933729-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933729T>C , CM000673.2:g.68933729T>C	GRCh38
NC_000011.9:g.68701197T>C , CM000673.1:g.68701197T>C	GRCh37
NC_000011.8:g.68457773T>C	NCBI36
NG_007976.1:g.34879T>C , LRG_250:g.34879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1419-66T>C MANE Select	ENSP00000255078.4:n.1419-66T>C
ENST00000674955.1:c.*136-66T>C	ENSP00000502463.1:n.*136-66T>C
ENST00000675118.1:c.907-66T>C
ENST00000675205.1:n.183+248T>C
ENST00000675615.1:c.1419-66T>C	ENSP00000502413.1:n.1419-66T>C
ENST00000675648.1:n.794-66T>C
ENST00000675997.1:n.113-735T>C
ENST00000676173.1:n.2164-66T>C
ENST00000676228.1:c.*742-66T>C	ENSP00000502375.1:n.*742-66T>C
ENST00000255078.7:c.1419-66T>C	ENSP00000255078.3:n.1419-66T>C
ENST00000537458.5:n.536-66T>C
ENST00000539064.5:n.1178-66T>C
ENST00000541229.5:n.48T>C
ENST00000543739.5:n.536-66T>C
NM_002180.2:c.1419-66T>C , LRG_250t1:c.1419-66T>C	NP_002171.2:n.1419-66T>C
XM_005273974.2:c.408-66T>C	XP_005274031.1:n.408-66T>C
XM_005273975.2:c.291-66T>C	XP_005274032.1:n.291-66T>C
XM_011544994.1:c.186-66T>C	XP_011543296.1:n.186-66T>C
XR_949903.1:n.1521-66T>C
XM_005273975.3:c.291-66T>C	XP_005274032.1:n.291-66T>C
XM_017017669.2:c.408-66T>C	XP_016873158.1:n.408-66T>C
XM_017017670.2:c.408-66T>C	XP_016873159.1:n.408-66T>C
XM_017017671.2:c.1419-66T>C	XP_016873160.1:n.1419-66T>C
XR_949903.3:n.1517-66T>C
NM_002180.3:c.1419-66T>C MANE Select	NP_002171.2:n.1419-66T>C