Canonical Allele Identifier: CA381643100

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908192-G-A
• MyVariant Identifiers: chr11:g.68675660G>A (hg19) ; chr11:g.68908192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908192G>A , CM000673.2:g.68908192G>A	GRCh38
NC_000011.9:g.68675660G>A , CM000673.1:g.68675660G>A	GRCh37
NC_000011.8:g.68432236G>A	NCBI36
NG_007976.1:g.9342G>A , LRG_250:g.9342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.304G>A MANE Select	ENSP00000255078.4:p.Ala102Thr
ENST00000539224.2:c.267G>A
ENST00000674583.1:c.267G>A
ENST00000674597.1:c.115G>A
ENST00000674955.1:c.304G>A	ENSP00000502463.1:p.Ala102Thr
ENST00000675142.1:n.267G>A
ENST00000675469.1:c.180G>A
ENST00000675615.1:c.304G>A	ENSP00000502413.1:p.Ala102Thr
ENST00000675674.1:n.267G>A
ENST00000675873.1:c.267G>A
ENST00000676173.1:n.348G>A
ENST00000676228.1:c.304G>A	ENSP00000502375.1:p.Ala102Thr
ENST00000255078.7:c.304G>A	ENSP00000255078.3:p.Ala102Thr
ENST00000539224.1:c.304G>A	ENSP00000440465.1:p.Ala102Thr
ENST00000544541.1:c.*44G>A	ENSP00000443343.1:n.*44G>A
ENST00000545146.1:c.*174G>A	ENSP00000456366.1:n.*174G>A
NM_002180.2:c.304G>A , LRG_250t1:c.304G>A	NP_002171.2:p.Ala102Thr
XM_005273974.2:c.-708G>A	XP_005274031.1:n.-708G>A
XM_005273976.1:c.304G>A	XP_005274033.1:p.Ala102Thr
XR_247198.1:n.406G>A
XR_949903.1:n.406G>A
XM_005273976.2:c.304G>A	XP_005274033.1:p.Ala102Thr
XM_017017669.2:c.-610G>A	XP_016873158.1:n.-610G>A
XM_017017671.2:c.304G>A	XP_016873160.1:p.Ala102Thr
XR_949903.3:n.402G>A
NM_002180.3:c.304G>A MANE Select	NP_002171.2:p.Ala102Thr