Canonical Allele Identifier: CA475278966

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703907T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936439T>C , CM000673.2:g.68936439T>C	GRCh38
NC_000011.9:g.68703907T>C , CM000673.1:g.68703907T>C	GRCh37
NC_000011.8:g.68460483T>C	NCBI36
NG_007976.1:g.37589T>C , LRG_250:g.37589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1959T>C MANE Select	ENSP00000255078.4:p.His653=
ENST00000674675.1:c.203T>C
ENST00000674878.1:c.203T>C
ENST00000674955.1:c.*676T>C	ENSP00000502463.1:n.*676T>C
ENST00000675118.1:c.1447T>C
ENST00000675389.1:n.234T>C
ENST00000675615.1:c.1959T>C	ENSP00000502413.1:p.His653=
ENST00000675648.1:n.1334T>C
ENST00000675916.1:c.203T>C
ENST00000676173.1:n.2704T>C
ENST00000676182.1:c.390T>C
ENST00000676228.1:c.*1282T>C	ENSP00000502375.1:n.*1282T>C
ENST00000255078.7:c.1959T>C	ENSP00000255078.3:p.His653=
ENST00000539064.5:n.1718T>C
ENST00000543739.5:n.952T>C
ENST00000545475.1:n.555T>C
NM_002180.2:c.1959T>C , LRG_250t1:c.1959T>C	NP_002171.2:p.His653=
XM_005273974.2:c.948T>C	XP_005274031.1:p.His316=
XM_005273975.2:c.831T>C	XP_005274032.1:p.His277=
XM_011544994.1:c.726T>C	XP_011543296.1:p.His242=
XR_949903.1:n.2061T>C
XM_005273975.3:c.831T>C	XP_005274032.1:p.His277=
XM_017017669.2:c.948T>C	XP_016873158.1:p.His316=
XM_017017670.2:c.948T>C	XP_016873159.1:p.His316=
XR_949903.3:n.2057T>C
NM_002180.3:c.1959T>C MANE Select	NP_002171.2:p.His653=