Canonical Allele Identifier: CA6153600

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933369C>T , CM000673.2:g.68933369C>T	GRCh38
NC_000011.9:g.68700837C>T , CM000673.1:g.68700837C>T	GRCh37
NC_000011.8:g.68457413C>T	NCBI36
NG_007976.1:g.34519C>T , LRG_250:g.34519C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1306C>T MANE Select	NP_002171.2:p.Arg436Trp
ENST00000255078.8:c.1306C>T MANE Select	ENSP00000255078.4:p.Arg436Trp
NM_002180.2:c.1306C>T , LRG_250t1:c.1306C>T	NP_002171.2:p.Arg436Trp
ENST00000255078.7:c.1306C>T	ENSP00000255078.3:p.Arg436Trp
ENST00000536803.1:n.415C>T
ENST00000536803.2:n.217C>T
ENST00000537458.5:n.423C>T
ENST00000539064.5:n.1065C>T
ENST00000543739.5:n.423C>T
ENST00000568742.1:n.528C>T
ENST00000674955.1:c.*23C>T	ENSP00000502463.1:n.*23C>T
ENST00000675118.1:c.794C>T
ENST00000675205.1:n.71C>T
ENST00000675310.1:n.443C>T
ENST00000675615.1:c.1306C>T	ENSP00000502413.1:p.Arg436Trp
ENST00000675648.1:n.681C>T
ENST00000675997.1:n.113-1095C>T
ENST00000676149.1:n.380C>T
ENST00000676173.1:n.2051C>T
ENST00000676228.1:c.*629C>T	ENSP00000502375.1:n.*629C>T
XM_005273974.2:c.295C>T	XP_005274031.1:p.Arg99Trp
XM_005273975.2:c.178C>T	XP_005274032.1:p.Arg60Trp
XM_005273975.3:c.178C>T	XP_005274032.1:p.Arg60Trp
XM_011544994.1:c.73C>T	XP_011543296.1:p.Arg25Trp
XM_017017669.2:c.295C>T	XP_016873158.1:p.Arg99Trp
XM_017017670.2:c.295C>T	XP_016873159.1:p.Arg99Trp
XM_017017671.2:c.1306C>T	XP_016873160.1:p.Arg436Trp
XR_247198.1:n.2109C>T
XR_949903.1:n.1408C>T
XR_949903.3:n.1404C>T