Canonical Allele Identifier: CA381650294

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933899-C-A
• MyVariant Identifiers: chr11:g.68701367C>A (hg19) ; chr11:g.68933899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933899C>A , CM000673.2:g.68933899C>A	GRCh38
NC_000011.9:g.68701367C>A , CM000673.1:g.68701367C>A	GRCh37
NC_000011.8:g.68457943C>A	NCBI36
NG_007976.1:g.35049C>A , LRG_250:g.35049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1523C>A MANE Select	ENSP00000255078.4:p.Ser508Ter
ENST00000674955.1:c.*240C>A	ENSP00000502463.1:n.*240C>A
ENST00000675118.1:c.1011C>A
ENST00000675205.1:n.183+418C>A
ENST00000675615.1:c.1523C>A	ENSP00000502413.1:p.Ser508Ter
ENST00000675648.1:n.898C>A
ENST00000675997.1:n.113-565C>A
ENST00000676173.1:n.2268C>A
ENST00000676228.1:c.*846C>A	ENSP00000502375.1:n.*846C>A
ENST00000255078.7:c.1523C>A	ENSP00000255078.3:p.Ser508Ter
ENST00000537458.5:n.640C>A
ENST00000539064.5:n.1282C>A
ENST00000541229.5:n.218C>A
ENST00000543739.5:n.640C>A
NM_002180.2:c.1523C>A , LRG_250t1:c.1523C>A	NP_002171.2:p.Ser508Ter
XM_005273974.2:c.512C>A	XP_005274031.1:p.Ser171Ter
XM_005273975.2:c.395C>A	XP_005274032.1:p.Ser132Ter
XM_011544994.1:c.290C>A	XP_011543296.1:p.Ser97Ter
XR_949903.1:n.1625C>A
XM_005273975.3:c.395C>A	XP_005274032.1:p.Ser132Ter
XM_017017669.2:c.512C>A	XP_016873158.1:p.Ser171Ter
XM_017017670.2:c.512C>A	XP_016873159.1:p.Ser171Ter
XM_017017671.2:c.1523C>A	XP_016873160.1:p.Ser508Ter
XR_949903.3:n.1621C>A
NM_002180.3:c.1523C>A MANE Select	NP_002171.2:p.Ser508Ter