Canonical Allele Identifier: CA381648691

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933326C>G , CM000673.2:g.68933326C>G	GRCh38
NC_000011.9:g.68700794C>G , CM000673.1:g.68700794C>G	GRCh37
NC_000011.8:g.68457370C>G	NCBI36
NG_007976.1:g.34476C>G , LRG_250:g.34476C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1263C>G MANE Select	NP_002171.2:p.Ser421Arg
ENST00000255078.8:c.1263C>G MANE Select	ENSP00000255078.4:p.Ser421Arg
NM_002180.2:c.1263C>G , LRG_250t1:c.1263C>G	NP_002171.2:p.Ser421Arg
ENST00000255078.7:c.1263C>G	ENSP00000255078.3:p.Ser421Arg
ENST00000536803.1:n.372C>G
ENST00000536803.2:n.174C>G
ENST00000537458.5:n.380C>G
ENST00000539064.5:n.1022C>G
ENST00000543739.5:n.380C>G
ENST00000568742.1:n.485C>G
ENST00000674955.1:c.1375C>G	ENSP00000502463.1:p.Pro459Ala
ENST00000675118.1:c.751C>G
ENST00000675205.1:n.28C>G
ENST00000675310.1:n.400C>G
ENST00000675615.1:c.1263C>G	ENSP00000502413.1:p.Ser421Arg
ENST00000675648.1:n.638C>G
ENST00000675997.1:n.113-1138C>G
ENST00000676149.1:n.337C>G
ENST00000676173.1:n.2008C>G
ENST00000676228.1:c.*586C>G	ENSP00000502375.1:n.*586C>G
XM_005273974.2:c.252C>G	XP_005274031.1:p.Ser84Arg
XM_005273975.2:c.135C>G	XP_005274032.1:p.Ser45Arg
XM_005273975.3:c.135C>G	XP_005274032.1:p.Ser45Arg
XM_011544994.1:c.30C>G	XP_011543296.1:p.Ser10Arg
XM_017017669.2:c.252C>G	XP_016873158.1:p.Ser84Arg
XM_017017670.2:c.252C>G	XP_016873159.1:p.Ser84Arg
XM_017017671.2:c.1263C>G	XP_016873160.1:p.Ser421Arg
XR_247198.1:n.2066C>G
XR_949903.1:n.1365C>G
XR_949903.3:n.1361C>G