Canonical Allele Identifier: CA475204561

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68937027-C-T
• MyVariant Identifiers: chr11:g.68704495C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937027C>T , CM000673.2:g.68937027C>T	GRCh38
NC_000011.9:g.68704495C>T , CM000673.1:g.68704495C>T	GRCh37
NC_000011.8:g.68461071C>T	NCBI36
NG_007976.1:g.38177C>T , LRG_250:g.38177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2547C>T MANE Select	ENSP00000255078.4:p.Ala849=
ENST00000674675.1:c.692C>T
ENST00000674878.1:c.652C>T
ENST00000675118.1:c.2035C>T
ENST00000675389.1:n.822C>T
ENST00000675615.1:c.2547C>T	ENSP00000502413.1:p.Ala849=
ENST00000675648.1:n.1922C>T
ENST00000675916.1:c.791C>T
ENST00000676173.1:n.3292C>T
ENST00000676182.1:c.978C>T
ENST00000676228.1:c.*1870C>T	ENSP00000502375.1:n.*1870C>T
ENST00000255078.7:c.2547C>T	ENSP00000255078.3:p.Ala849=
ENST00000539064.5:n.2306C>T
ENST00000543739.5:n.1540C>T
NM_002180.2:c.2547C>T , LRG_250t1:c.2547C>T	NP_002171.2:p.Ala849=
XM_005273974.2:c.1536C>T	XP_005274031.1:p.Ala512=
XM_005273975.2:c.1419C>T	XP_005274032.1:p.Ala473=
XM_011544994.1:c.1314C>T	XP_011543296.1:p.Ala438=
XR_949903.1:n.2649C>T
XM_005273975.3:c.1419C>T	XP_005274032.1:p.Ala473=
XM_017017669.2:c.1536C>T	XP_016873158.1:p.Ala512=
XM_017017670.2:c.1536C>T	XP_016873159.1:p.Ala512=
XR_949903.3:n.2645C>T
NM_002180.3:c.2547C>T MANE Select	NP_002171.2:p.Ala849=