Canonical Allele Identifier: CA381651662

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703782T>C (hg19) ; chr11:g.68936314T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936314T>C , CM000673.2:g.68936314T>C	GRCh38
NC_000011.9:g.68703782T>C , CM000673.1:g.68703782T>C	GRCh37
NC_000011.8:g.68460358T>C	NCBI36
NG_007976.1:g.37464T>C , LRG_250:g.37464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1834T>C MANE Select	ENSP00000255078.4:p.Cys612Arg
ENST00000674675.1:c.78T>C
ENST00000674878.1:c.78T>C
ENST00000674955.1:c.*551T>C	ENSP00000502463.1:n.*551T>C
ENST00000675118.1:c.1322T>C
ENST00000675389.1:n.109T>C
ENST00000675615.1:c.1834T>C	ENSP00000502413.1:p.Cys612Arg
ENST00000675648.1:n.1209T>C
ENST00000675916.1:c.78T>C
ENST00000676173.1:n.2579T>C
ENST00000676182.1:c.265T>C
ENST00000676228.1:c.*1157T>C	ENSP00000502375.1:n.*1157T>C
ENST00000255078.7:c.1834T>C	ENSP00000255078.3:p.Cys612Arg
ENST00000539064.5:n.1593T>C
ENST00000541229.5:n.529T>C
ENST00000543739.5:n.827T>C
ENST00000545475.1:n.430T>C
NM_002180.2:c.1834T>C , LRG_250t1:c.1834T>C	NP_002171.2:p.Cys612Arg
XM_005273974.2:c.823T>C	XP_005274031.1:p.Cys275Arg
XM_005273975.2:c.706T>C	XP_005274032.1:p.Cys236Arg
XM_011544994.1:c.601T>C	XP_011543296.1:p.Cys201Arg
XR_949903.1:n.1936T>C
XM_005273975.3:c.706T>C	XP_005274032.1:p.Cys236Arg
XM_017017669.2:c.823T>C	XP_016873158.1:p.Cys275Arg
XM_017017670.2:c.823T>C	XP_016873159.1:p.Cys275Arg
XR_949903.3:n.1932T>C
NM_002180.3:c.1834T>C MANE Select	NP_002171.2:p.Cys612Arg