Canonical Allele Identifier: CA6153279

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2928385
• ClinVar RCV Id: RCV003787207
• dbSNP Id: rs772920126
• ExAC: 11:68675764 G / A
• gnomAD v2: 11-68675764-G-A
• gnomAD v4: 11-68908296-G-A
• MyVariant Identifiers: chr11:g.68675764G>A (hg19) ; chr11:g.68908296G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908296G>A , CM000673.2:g.68908296G>A	GRCh38
NC_000011.9:g.68675764G>A , CM000673.1:g.68675764G>A	GRCh37
NC_000011.8:g.68432340G>A	NCBI36
NG_007976.1:g.9446G>A , LRG_250:g.9446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.408G>A MANE Select	ENSP00000255078.4:p.Leu136=
ENST00000539224.2:c.371G>A
ENST00000674583.1:c.371G>A
ENST00000674597.1:c.219G>A
ENST00000674955.1:c.408G>A	ENSP00000502463.1:p.Leu136=
ENST00000675142.1:n.371G>A
ENST00000675469.1:c.284G>A
ENST00000675615.1:c.408G>A	ENSP00000502413.1:p.Leu136=
ENST00000675674.1:n.371G>A
ENST00000675873.1:c.371G>A
ENST00000676173.1:n.452G>A
ENST00000676228.1:c.408G>A	ENSP00000502375.1:p.Leu136=
ENST00000255078.7:c.408G>A	ENSP00000255078.3:p.Leu136=
ENST00000539224.1:c.408G>A	ENSP00000440465.1:p.Leu136=
ENST00000544541.1:c.*148G>A	ENSP00000443343.1:n.*148G>A
NM_002180.2:c.408G>A , LRG_250t1:c.408G>A	NP_002171.2:p.Leu136=
XM_005273974.2:c.-604G>A	XP_005274031.1:n.-604G>A
XM_005273976.1:c.408G>A	XP_005274033.1:p.Leu136=
XR_247198.1:n.510G>A
XR_949903.1:n.510G>A
XM_005273976.2:c.408G>A	XP_005274033.1:p.Leu136=
XM_017017669.2:c.-506G>A	XP_016873158.1:n.-506G>A
XM_017017671.2:c.408G>A	XP_016873160.1:p.Leu136=
XR_949903.3:n.506G>A
NM_002180.3:c.408G>A MANE Select	NP_002171.2:p.Leu136=