Canonical Allele Identifier: CA6153604

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933390C>T , CM000673.2:g.68933390C>T	GRCh38
NC_000011.9:g.68700858C>T , CM000673.1:g.68700858C>T	GRCh37
NC_000011.8:g.68457434C>T	NCBI36
NG_007976.1:g.34540C>T , LRG_250:g.34540C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1327C>T MANE Select	NP_002171.2:p.Arg443Cys
ENST00000255078.8:c.1327C>T MANE Select	ENSP00000255078.4:p.Arg443Cys
NM_002180.2:c.1327C>T , LRG_250t1:c.1327C>T	NP_002171.2:p.Arg443Cys
ENST00000255078.7:c.1327C>T	ENSP00000255078.3:p.Arg443Cys
ENST00000536803.1:n.436C>T
ENST00000536803.2:n.238C>T
ENST00000537458.5:n.444C>T
ENST00000539064.5:n.1086C>T
ENST00000543739.5:n.444C>T
ENST00000674955.1:c.*44C>T	ENSP00000502463.1:n.*44C>T
ENST00000675118.1:c.815C>T
ENST00000675205.1:n.92C>T
ENST00000675310.1:n.464C>T
ENST00000675615.1:c.1327C>T	ENSP00000502413.1:p.Arg443Cys
ENST00000675648.1:n.702C>T
ENST00000675997.1:n.113-1074C>T
ENST00000676149.1:n.401C>T
ENST00000676173.1:n.2072C>T
ENST00000676228.1:c.*650C>T	ENSP00000502375.1:n.*650C>T
XM_005273974.2:c.316C>T	XP_005274031.1:p.Arg106Cys
XM_005273975.2:c.199C>T	XP_005274032.1:p.Arg67Cys
XM_005273975.3:c.199C>T	XP_005274032.1:p.Arg67Cys
XM_011544994.1:c.94C>T	XP_011543296.1:p.Arg32Cys
XM_017017669.2:c.316C>T	XP_016873158.1:p.Arg106Cys
XM_017017670.2:c.316C>T	XP_016873159.1:p.Arg106Cys
XM_017017671.2:c.1327C>T	XP_016873160.1:p.Arg443Cys
XR_247198.1:n.2130C>T
XR_949903.1:n.1429C>T
XR_949903.3:n.1425C>T