Canonical Allele Identifier: CA475200727

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68700948A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933480A>C , CM000673.2:g.68933480A>C	GRCh38
NC_000011.9:g.68700948A>C , CM000673.1:g.68700948A>C	GRCh37
NC_000011.8:g.68457524A>C	NCBI36
NG_007976.1:g.34630A>C , LRG_250:g.34630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1417A>C MANE Select	ENSP00000255078.4:p.Arg473=
ENST00000536803.2:n.328A>C
ENST00000674955.1:c.*134A>C	ENSP00000502463.1:n.*134A>C
ENST00000675118.1:c.905A>C
ENST00000675205.1:n.182A>C
ENST00000675310.1:n.554A>C
ENST00000675615.1:c.1417A>C	ENSP00000502413.1:p.Arg473=
ENST00000675648.1:n.792A>C
ENST00000675997.1:n.113-984A>C
ENST00000676149.1:n.491A>C
ENST00000676173.1:n.2162A>C
ENST00000676228.1:c.*740A>C	ENSP00000502375.1:n.*740A>C
ENST00000255078.7:c.1417A>C	ENSP00000255078.3:p.Arg473=
ENST00000537458.5:n.534A>C
ENST00000539064.5:n.1176A>C
ENST00000543739.5:n.534A>C
NM_002180.2:c.1417A>C , LRG_250t1:c.1417A>C	NP_002171.2:p.Arg473=
XM_005273974.2:c.406A>C	XP_005274031.1:p.Arg136=
XM_005273975.2:c.289A>C	XP_005274032.1:p.Arg97=
XM_011544994.1:c.184A>C	XP_011543296.1:p.Arg62=
XR_949903.1:n.1519A>C
XM_005273975.3:c.289A>C	XP_005274032.1:p.Arg97=
XM_017017669.2:c.406A>C	XP_016873158.1:p.Arg136=
XM_017017670.2:c.406A>C	XP_016873159.1:p.Arg136=
XM_017017671.2:c.1417A>C	XP_016873160.1:p.Arg473=
XR_949903.3:n.1515A>C
NM_002180.3:c.1417A>C MANE Select	NP_002171.2:p.Arg473=