Canonical Allele Identifier: CA381648742

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933336C>T , CM000673.2:g.68933336C>T	GRCh38
NC_000011.9:g.68700804C>T , CM000673.1:g.68700804C>T	GRCh37
NC_000011.8:g.68457380C>T	NCBI36
NG_007976.1:g.34486C>T , LRG_250:g.34486C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1273C>T MANE Select	NP_002171.2:p.Arg425Cys
ENST00000255078.8:c.1273C>T MANE Select	ENSP00000255078.4:p.Arg425Cys
NM_002180.2:c.1273C>T , LRG_250t1:c.1273C>T	NP_002171.2:p.Arg425Cys
ENST00000255078.7:c.1273C>T	ENSP00000255078.3:p.Arg425Cys
ENST00000536803.1:n.382C>T
ENST00000536803.2:n.184C>T
ENST00000537458.5:n.390C>T
ENST00000539064.5:n.1032C>T
ENST00000543739.5:n.390C>T
ENST00000568742.1:n.495C>T
ENST00000674955.1:c.1385C>T	ENSP00000502463.1:p.Thr462Met
ENST00000675118.1:c.761C>T
ENST00000675205.1:n.38C>T
ENST00000675310.1:n.410C>T
ENST00000675615.1:c.1273C>T	ENSP00000502413.1:p.Arg425Cys
ENST00000675648.1:n.648C>T
ENST00000675997.1:n.113-1128C>T
ENST00000676149.1:n.347C>T
ENST00000676173.1:n.2018C>T
ENST00000676228.1:c.*596C>T	ENSP00000502375.1:n.*596C>T
XM_005273974.2:c.262C>T	XP_005274031.1:p.Arg88Cys
XM_005273975.2:c.145C>T	XP_005274032.1:p.Arg49Cys
XM_005273975.3:c.145C>T	XP_005274032.1:p.Arg49Cys
XM_011544994.1:c.40C>T	XP_011543296.1:p.Arg14Cys
XM_017017669.2:c.262C>T	XP_016873158.1:p.Arg88Cys
XM_017017670.2:c.262C>T	XP_016873159.1:p.Arg88Cys
XM_017017671.2:c.1273C>T	XP_016873160.1:p.Arg425Cys
XR_247198.1:n.2076C>T
XR_949903.1:n.1375C>T
XR_949903.3:n.1371C>T