Canonical Allele Identifier: CA475280904

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704405C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936937C>T , CM000673.2:g.68936937C>T	GRCh38
NC_000011.9:g.68704405C>T , CM000673.1:g.68704405C>T	GRCh37
NC_000011.8:g.68460981C>T	NCBI36
NG_007976.1:g.38087C>T , LRG_250:g.38087C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2457C>T MANE Select	ENSP00000255078.4:p.Pro819=
ENST00000674675.1:c.602C>T
ENST00000674878.1:c.562C>T
ENST00000675118.1:c.1945C>T
ENST00000675389.1:n.732C>T
ENST00000675615.1:c.2457C>T	ENSP00000502413.1:p.Pro819=
ENST00000675648.1:n.1832C>T
ENST00000675916.1:c.701C>T
ENST00000676173.1:n.3202C>T
ENST00000676182.1:c.888C>T
ENST00000676228.1:c.*1780C>T	ENSP00000502375.1:n.*1780C>T
ENST00000255078.7:c.2457C>T	ENSP00000255078.3:p.Pro819=
ENST00000539064.5:n.2216C>T
ENST00000543739.5:n.1450C>T
NM_002180.2:c.2457C>T , LRG_250t1:c.2457C>T	NP_002171.2:p.Pro819=
XM_005273974.2:c.1446C>T	XP_005274031.1:p.Pro482=
XM_005273975.2:c.1329C>T	XP_005274032.1:p.Pro443=
XM_011544994.1:c.1224C>T	XP_011543296.1:p.Pro408=
XR_949903.1:n.2559C>T
XM_005273975.3:c.1329C>T	XP_005274032.1:p.Pro443=
XM_017017669.2:c.1446C>T	XP_016873158.1:p.Pro482=
XM_017017670.2:c.1446C>T	XP_016873159.1:p.Pro482=
XR_949903.3:n.2555C>T
NM_002180.3:c.2457C>T MANE Select	NP_002171.2:p.Pro819=