Canonical Allele Identifier: CA381649845

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933836-C-T
• MyVariant Identifiers: chr11:g.68701304C>T (hg19) ; chr11:g.68933836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933836C>T , CM000673.2:g.68933836C>T	GRCh38
NC_000011.9:g.68701304C>T , CM000673.1:g.68701304C>T	GRCh37
NC_000011.8:g.68457880C>T	NCBI36
NG_007976.1:g.34986C>T , LRG_250:g.34986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1460C>T MANE Select	ENSP00000255078.4:p.Pro487Leu
ENST00000674955.1:c.*177C>T	ENSP00000502463.1:n.*177C>T
ENST00000675118.1:c.948C>T
ENST00000675205.1:n.183+355C>T
ENST00000675615.1:c.1460C>T	ENSP00000502413.1:p.Pro487Leu
ENST00000675648.1:n.835C>T
ENST00000675997.1:n.113-628C>T
ENST00000676173.1:n.2205C>T
ENST00000676228.1:c.*783C>T	ENSP00000502375.1:n.*783C>T
ENST00000255078.7:c.1460C>T	ENSP00000255078.3:p.Pro487Leu
ENST00000537458.5:n.577C>T
ENST00000539064.5:n.1219C>T
ENST00000541229.5:n.155C>T
ENST00000543739.5:n.577C>T
NM_002180.2:c.1460C>T , LRG_250t1:c.1460C>T	NP_002171.2:p.Pro487Leu
XM_005273974.2:c.449C>T	XP_005274031.1:p.Pro150Leu
XM_005273975.2:c.332C>T	XP_005274032.1:p.Pro111Leu
XM_011544994.1:c.227C>T	XP_011543296.1:p.Pro76Leu
XR_949903.1:n.1562C>T
XM_005273975.3:c.332C>T	XP_005274032.1:p.Pro111Leu
XM_017017669.2:c.449C>T	XP_016873158.1:p.Pro150Leu
XM_017017670.2:c.449C>T	XP_016873159.1:p.Pro150Leu
XM_017017671.2:c.1460C>T	XP_016873160.1:p.Pro487Leu
XR_949903.3:n.1558C>T
NM_002180.3:c.1460C>T MANE Select	NP_002171.2:p.Pro487Leu