Canonical Allele Identifier: CA381650227

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933890-A-T
• MyVariant Identifiers: chr11:g.68701358A>T (hg19) ; chr11:g.68933890A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933890A>T , CM000673.2:g.68933890A>T	GRCh38
NC_000011.9:g.68701358A>T , CM000673.1:g.68701358A>T	GRCh37
NC_000011.8:g.68457934A>T	NCBI36
NG_007976.1:g.35040A>T , LRG_250:g.35040A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1514A>T MANE Select	ENSP00000255078.4:p.Asp505Val
ENST00000674955.1:c.*231A>T	ENSP00000502463.1:n.*231A>T
ENST00000675118.1:c.1002A>T
ENST00000675205.1:n.183+409A>T
ENST00000675615.1:c.1514A>T	ENSP00000502413.1:p.Asp505Val
ENST00000675648.1:n.889A>T
ENST00000675997.1:n.113-574A>T
ENST00000676173.1:n.2259A>T
ENST00000676228.1:c.*837A>T	ENSP00000502375.1:n.*837A>T
ENST00000255078.7:c.1514A>T	ENSP00000255078.3:p.Asp505Val
ENST00000537458.5:n.631A>T
ENST00000539064.5:n.1273A>T
ENST00000541229.5:n.209A>T
ENST00000543739.5:n.631A>T
NM_002180.2:c.1514A>T , LRG_250t1:c.1514A>T	NP_002171.2:p.Asp505Val
XM_005273974.2:c.503A>T	XP_005274031.1:p.Asp168Val
XM_005273975.2:c.386A>T	XP_005274032.1:p.Asp129Val
XM_011544994.1:c.281A>T	XP_011543296.1:p.Asp94Val
XR_949903.1:n.1616A>T
XM_005273975.3:c.386A>T	XP_005274032.1:p.Asp129Val
XM_017017669.2:c.503A>T	XP_016873158.1:p.Asp168Val
XM_017017670.2:c.503A>T	XP_016873159.1:p.Asp168Val
XM_017017671.2:c.1514A>T	XP_016873160.1:p.Asp505Val
XR_949903.3:n.1612A>T
NM_002180.3:c.1514A>T MANE Select	NP_002171.2:p.Asp505Val