Canonical Allele Identifier: CA381648752

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933340T>G , CM000673.2:g.68933340T>G	GRCh38
NC_000011.9:g.68700808T>G , CM000673.1:g.68700808T>G	GRCh37
NC_000011.8:g.68457384T>G	NCBI36
NG_007976.1:g.34490T>G , LRG_250:g.34490T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1277T>G MANE Select	NP_002171.2:p.Leu426Arg
ENST00000255078.8:c.1277T>G MANE Select	ENSP00000255078.4:p.Leu426Arg
NM_002180.2:c.1277T>G , LRG_250t1:c.1277T>G	NP_002171.2:p.Leu426Arg
ENST00000255078.7:c.1277T>G	ENSP00000255078.3:p.Leu426Arg
ENST00000536803.1:n.386T>G
ENST00000536803.2:n.188T>G
ENST00000537458.5:n.394T>G
ENST00000539064.5:n.1036T>G
ENST00000543739.5:n.394T>G
ENST00000568742.1:n.499T>G
ENST00000674955.1:c.1389T>G	ENSP00000502463.1:p.Pro463=
ENST00000675118.1:c.765T>G
ENST00000675205.1:n.42T>G
ENST00000675310.1:n.414T>G
ENST00000675615.1:c.1277T>G	ENSP00000502413.1:p.Leu426Arg
ENST00000675648.1:n.652T>G
ENST00000675997.1:n.113-1124T>G
ENST00000676149.1:n.351T>G
ENST00000676173.1:n.2022T>G
ENST00000676228.1:c.*600T>G	ENSP00000502375.1:n.*600T>G
XM_005273974.2:c.266T>G	XP_005274031.1:p.Leu89Arg
XM_005273975.2:c.149T>G	XP_005274032.1:p.Leu50Arg
XM_005273975.3:c.149T>G	XP_005274032.1:p.Leu50Arg
XM_011544994.1:c.44T>G	XP_011543296.1:p.Leu15Arg
XM_017017669.2:c.266T>G	XP_016873158.1:p.Leu89Arg
XM_017017670.2:c.266T>G	XP_016873159.1:p.Leu89Arg
XM_017017671.2:c.1277T>G	XP_016873160.1:p.Leu426Arg
XR_247198.1:n.2080T>G
XR_949903.1:n.1379T>G
XR_949903.3:n.1375T>G