Canonical Allele Identifier: CA475197915

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929283C>T , CM000673.2:g.68929283C>T	GRCh38
NC_000011.9:g.68696751C>T , CM000673.1:g.68696751C>T	GRCh37
NC_000011.8:g.68453327C>T	NCBI36
NG_007976.1:g.30433C>T , LRG_250:g.30433C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1161C>T MANE Select	NP_002171.2:p.Ile387=
ENST00000255078.8:c.1161C>T MANE Select	ENSP00000255078.4:p.Ile387=
NM_002180.2:c.1161C>T , LRG_250t1:c.1161C>T	NP_002171.2:p.Ile387=
ENST00000255078.7:c.1161C>T	ENSP00000255078.3:p.Ile387=
ENST00000568742.1:n.271C>T
ENST00000674698.1:n.101C>T
ENST00000674745.1:c.326C>T	ENSP00000502738.1:n.326C>T
ENST00000674775.1:n.361C>T
ENST00000674955.1:c.1161C>T	ENSP00000502463.1:p.Ile387=
ENST00000675118.1:c.649C>T
ENST00000675305.1:c.481C>T	ENSP00000502365.1:n.481C>T
ENST00000675310.1:n.101C>T
ENST00000675493.1:n.322C>T
ENST00000675615.1:c.1161C>T	ENSP00000502413.1:p.Ile387=
ENST00000675648.1:n.536C>T
ENST00000675684.1:c.288C>T	ENSP00000502192.1:p.Ile96=
ENST00000675755.1:n.101C>T
ENST00000676083.1:n.101C>T
ENST00000676173.1:n.1205C>T
ENST00000676228.1:c.*484C>T	ENSP00000502375.1:n.*484C>T
ENST00000676240.1:n.101C>T
ENST00000676400.1:n.101C>T
XM_005273974.2:c.150C>T	XP_005274031.1:p.Ile50=
XM_005273976.1:c.1161C>T	XP_005274033.1:p.Ile387=
XM_005273976.2:c.1161C>T	XP_005274033.1:p.Ile387=
XM_017017669.2:c.150C>T	XP_016873158.1:p.Ile50=
XM_017017670.2:c.150C>T	XP_016873159.1:p.Ile50=
XM_017017671.2:c.1161C>T	XP_016873160.1:p.Ile387=
XR_247198.1:n.1263C>T
XR_949903.1:n.1263C>T
XR_949903.3:n.1259C>T