Canonical Allele Identifier: CA381649862

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1365833591
• gnomAD v2: 11-68701309-C-G
• gnomAD v4: 11-68933841-C-G
• MyVariant Identifiers: chr11:g.68701309C>G (hg19) ; chr11:g.68933841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933841C>G , CM000673.2:g.68933841C>G	GRCh38
NC_000011.9:g.68701309C>G , CM000673.1:g.68701309C>G	GRCh37
NC_000011.8:g.68457885C>G	NCBI36
NG_007976.1:g.34991C>G , LRG_250:g.34991C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1465C>G MANE Select	ENSP00000255078.4:p.Leu489Val
ENST00000674955.1:c.*182C>G	ENSP00000502463.1:n.*182C>G
ENST00000675118.1:c.953C>G
ENST00000675205.1:n.183+360C>G
ENST00000675615.1:c.1465C>G	ENSP00000502413.1:p.Leu489Val
ENST00000675648.1:n.840C>G
ENST00000675997.1:n.113-623C>G
ENST00000676173.1:n.2210C>G
ENST00000676228.1:c.*788C>G	ENSP00000502375.1:n.*788C>G
ENST00000255078.7:c.1465C>G	ENSP00000255078.3:p.Leu489Val
ENST00000537458.5:n.582C>G
ENST00000539064.5:n.1224C>G
ENST00000541229.5:n.160C>G
ENST00000543739.5:n.582C>G
NM_002180.2:c.1465C>G , LRG_250t1:c.1465C>G	NP_002171.2:p.Leu489Val
XM_005273974.2:c.454C>G	XP_005274031.1:p.Leu152Val
XM_005273975.2:c.337C>G	XP_005274032.1:p.Leu113Val
XM_011544994.1:c.232C>G	XP_011543296.1:p.Leu78Val
XR_949903.1:n.1567C>G
XM_005273975.3:c.337C>G	XP_005274032.1:p.Leu113Val
XM_017017669.2:c.454C>G	XP_016873158.1:p.Leu152Val
XM_017017670.2:c.454C>G	XP_016873159.1:p.Leu152Val
XM_017017671.2:c.1465C>G	XP_016873160.1:p.Leu489Val
XR_949903.3:n.1563C>G
NM_002180.3:c.1465C>G MANE Select	NP_002171.2:p.Leu489Val