Canonical Allele Identifier: CA475200721

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68700947G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933479G>C , CM000673.2:g.68933479G>C	GRCh38
NC_000011.9:g.68700947G>C , CM000673.1:g.68700947G>C	GRCh37
NC_000011.8:g.68457523G>C	NCBI36
NG_007976.1:g.34629G>C , LRG_250:g.34629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1416G>C MANE Select	ENSP00000255078.4:p.Leu472=
ENST00000536803.2:n.327G>C
ENST00000674955.1:c.*133G>C	ENSP00000502463.1:n.*133G>C
ENST00000675118.1:c.904G>C
ENST00000675205.1:n.181G>C
ENST00000675310.1:n.553G>C
ENST00000675615.1:c.1416G>C	ENSP00000502413.1:p.Leu472=
ENST00000675648.1:n.791G>C
ENST00000675997.1:n.113-985G>C
ENST00000676149.1:n.490G>C
ENST00000676173.1:n.2161G>C
ENST00000676228.1:c.*739G>C	ENSP00000502375.1:n.*739G>C
ENST00000255078.7:c.1416G>C	ENSP00000255078.3:p.Leu472=
ENST00000537458.5:n.533G>C
ENST00000539064.5:n.1175G>C
ENST00000543739.5:n.533G>C
NM_002180.2:c.1416G>C , LRG_250t1:c.1416G>C	NP_002171.2:p.Leu472=
XM_005273974.2:c.405G>C	XP_005274031.1:p.Leu135=
XM_005273975.2:c.288G>C	XP_005274032.1:p.Leu96=
XM_011544994.1:c.183G>C	XP_011543296.1:p.Leu61=
XR_949903.1:n.1518G>C
XM_005273975.3:c.288G>C	XP_005274032.1:p.Leu96=
XM_017017669.2:c.405G>C	XP_016873158.1:p.Leu135=
XM_017017670.2:c.405G>C	XP_016873159.1:p.Leu135=
XM_017017671.2:c.1416G>C	XP_016873160.1:p.Leu472=
XR_949903.3:n.1514G>C
NM_002180.3:c.1416G>C MANE Select	NP_002171.2:p.Leu472=