Canonical Allele Identifier: CA381649718

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933817-A-C
• MyVariant Identifiers: chr11:g.68701285A>C (hg19) ; chr11:g.68933817A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933817A>C , CM000673.2:g.68933817A>C	GRCh38
NC_000011.9:g.68701285A>C , CM000673.1:g.68701285A>C	GRCh37
NC_000011.8:g.68457861A>C	NCBI36
NG_007976.1:g.34967A>C , LRG_250:g.34967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1441A>C MANE Select	ENSP00000255078.4:p.Thr481Pro
ENST00000674955.1:c.*158A>C	ENSP00000502463.1:n.*158A>C
ENST00000675118.1:c.929A>C
ENST00000675205.1:n.183+336A>C
ENST00000675615.1:c.1441A>C	ENSP00000502413.1:p.Thr481Pro
ENST00000675648.1:n.816A>C
ENST00000675997.1:n.113-647A>C
ENST00000676173.1:n.2186A>C
ENST00000676228.1:c.*764A>C	ENSP00000502375.1:n.*764A>C
ENST00000255078.7:c.1441A>C	ENSP00000255078.3:p.Thr481Pro
ENST00000537458.5:n.558A>C
ENST00000539064.5:n.1200A>C
ENST00000541229.5:n.136A>C
ENST00000543739.5:n.558A>C
NM_002180.2:c.1441A>C , LRG_250t1:c.1441A>C	NP_002171.2:p.Thr481Pro
XM_005273974.2:c.430A>C	XP_005274031.1:p.Thr144Pro
XM_005273975.2:c.313A>C	XP_005274032.1:p.Thr105Pro
XM_011544994.1:c.208A>C	XP_011543296.1:p.Thr70Pro
XR_949903.1:n.1543A>C
XM_005273975.3:c.313A>C	XP_005274032.1:p.Thr105Pro
XM_017017669.2:c.430A>C	XP_016873158.1:p.Thr144Pro
XM_017017670.2:c.430A>C	XP_016873159.1:p.Thr144Pro
XM_017017671.2:c.1441A>C	XP_016873160.1:p.Thr481Pro
XR_949903.3:n.1539A>C
NM_002180.3:c.1441A>C MANE Select	NP_002171.2:p.Thr481Pro