Canonical Allele Identifier: CA381650156

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701348G>C (hg19) ; chr11:g.68933880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933880G>C , CM000673.2:g.68933880G>C	GRCh38
NC_000011.9:g.68701348G>C , CM000673.1:g.68701348G>C	GRCh37
NC_000011.8:g.68457924G>C	NCBI36
NG_007976.1:g.35030G>C , LRG_250:g.35030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1504G>C MANE Select	ENSP00000255078.4:p.Glu502Gln
ENST00000674955.1:c.*221G>C	ENSP00000502463.1:n.*221G>C
ENST00000675118.1:c.992G>C
ENST00000675205.1:n.183+399G>C
ENST00000675615.1:c.1504G>C	ENSP00000502413.1:p.Glu502Gln
ENST00000675648.1:n.879G>C
ENST00000675997.1:n.113-584G>C
ENST00000676173.1:n.2249G>C
ENST00000676228.1:c.*827G>C	ENSP00000502375.1:n.*827G>C
ENST00000255078.7:c.1504G>C	ENSP00000255078.3:p.Glu502Gln
ENST00000537458.5:n.621G>C
ENST00000539064.5:n.1263G>C
ENST00000541229.5:n.199G>C
ENST00000543739.5:n.621G>C
NM_002180.2:c.1504G>C , LRG_250t1:c.1504G>C	NP_002171.2:p.Glu502Gln
XM_005273974.2:c.493G>C	XP_005274031.1:p.Glu165Gln
XM_005273975.2:c.376G>C	XP_005274032.1:p.Glu126Gln
XM_011544994.1:c.271G>C	XP_011543296.1:p.Glu91Gln
XR_949903.1:n.1606G>C
XM_005273975.3:c.376G>C	XP_005274032.1:p.Glu126Gln
XM_017017669.2:c.493G>C	XP_016873158.1:p.Glu165Gln
XM_017017670.2:c.493G>C	XP_016873159.1:p.Glu165Gln
XM_017017671.2:c.1504G>C	XP_016873160.1:p.Glu502Gln
XR_949903.3:n.1602G>C
NM_002180.3:c.1504G>C MANE Select	NP_002171.2:p.Glu502Gln