Canonical Allele Identifier: CA381648674

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933324A>C , CM000673.2:g.68933324A>C	GRCh38
NC_000011.9:g.68700792A>C , CM000673.1:g.68700792A>C	GRCh37
NC_000011.8:g.68457368A>C	NCBI36
NG_007976.1:g.34474A>C , LRG_250:g.34474A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1261A>C MANE Select	NP_002171.2:p.Ser421Arg
ENST00000255078.8:c.1261A>C MANE Select	ENSP00000255078.4:p.Ser421Arg
NM_002180.2:c.1261A>C , LRG_250t1:c.1261A>C	NP_002171.2:p.Ser421Arg
ENST00000255078.7:c.1261A>C	ENSP00000255078.3:p.Ser421Arg
ENST00000536803.1:n.370A>C
ENST00000536803.2:n.172A>C
ENST00000537458.5:n.378A>C
ENST00000539064.5:n.1020A>C
ENST00000543739.5:n.378A>C
ENST00000568742.1:n.483A>C
ENST00000674955.1:c.1373A>C	ENSP00000502463.1:p.Gln458Pro
ENST00000675118.1:c.749A>C
ENST00000675205.1:n.26A>C
ENST00000675310.1:n.398A>C
ENST00000675615.1:c.1261A>C	ENSP00000502413.1:p.Ser421Arg
ENST00000675648.1:n.636A>C
ENST00000675997.1:n.113-1140A>C
ENST00000676149.1:n.335A>C
ENST00000676173.1:n.2006A>C
ENST00000676228.1:c.*584A>C	ENSP00000502375.1:n.*584A>C
XM_005273974.2:c.250A>C	XP_005274031.1:p.Ser84Arg
XM_005273975.2:c.133A>C	XP_005274032.1:p.Ser45Arg
XM_005273975.3:c.133A>C	XP_005274032.1:p.Ser45Arg
XM_011544994.1:c.28A>C	XP_011543296.1:p.Ser10Arg
XM_017017669.2:c.250A>C	XP_016873158.1:p.Ser84Arg
XM_017017670.2:c.250A>C	XP_016873159.1:p.Ser84Arg
XM_017017671.2:c.1261A>C	XP_016873160.1:p.Ser421Arg
XR_247198.1:n.2064A>C
XR_949903.1:n.1363A>C
XR_949903.3:n.1359A>C