Canonical Allele Identifier: CA475204527

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704447G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936979G>C , CM000673.2:g.68936979G>C	GRCh38
NC_000011.9:g.68704447G>C , CM000673.1:g.68704447G>C	GRCh37
NC_000011.8:g.68461023G>C	NCBI36
NG_007976.1:g.38129G>C , LRG_250:g.38129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2499G>C MANE Select	ENSP00000255078.4:p.Leu833=
ENST00000674675.1:c.644G>C
ENST00000674878.1:c.604G>C
ENST00000675118.1:c.1987G>C
ENST00000675389.1:n.774G>C
ENST00000675615.1:c.2499G>C	ENSP00000502413.1:p.Leu833=
ENST00000675648.1:n.1874G>C
ENST00000675916.1:c.743G>C
ENST00000676173.1:n.3244G>C
ENST00000676182.1:c.930G>C
ENST00000676228.1:c.*1822G>C	ENSP00000502375.1:n.*1822G>C
ENST00000255078.7:c.2499G>C	ENSP00000255078.3:p.Leu833=
ENST00000539064.5:n.2258G>C
ENST00000543739.5:n.1492G>C
NM_002180.2:c.2499G>C , LRG_250t1:c.2499G>C	NP_002171.2:p.Leu833=
XM_005273974.2:c.1488G>C	XP_005274031.1:p.Leu496=
XM_005273975.2:c.1371G>C	XP_005274032.1:p.Leu457=
XM_011544994.1:c.1266G>C	XP_011543296.1:p.Leu422=
XR_949903.1:n.2601G>C
XM_005273975.3:c.1371G>C	XP_005274032.1:p.Leu457=
XM_017017669.2:c.1488G>C	XP_016873158.1:p.Leu496=
XM_017017670.2:c.1488G>C	XP_016873159.1:p.Leu496=
XR_949903.3:n.2597G>C
NM_002180.3:c.2499G>C MANE Select	NP_002171.2:p.Leu833=