Canonical Allele Identifier: CA475204366

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703826G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936358G>T , CM000673.2:g.68936358G>T	GRCh38
NC_000011.9:g.68703826G>T , CM000673.1:g.68703826G>T	GRCh37
NC_000011.8:g.68460402G>T	NCBI36
NG_007976.1:g.37508G>T , LRG_250:g.37508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1878G>T MANE Select	ENSP00000255078.4:p.Leu626=
ENST00000674675.1:c.122G>T
ENST00000674878.1:c.122G>T
ENST00000674955.1:c.*595G>T	ENSP00000502463.1:n.*595G>T
ENST00000675118.1:c.1366G>T
ENST00000675389.1:n.153G>T
ENST00000675615.1:c.1878G>T	ENSP00000502413.1:p.Leu626=
ENST00000675648.1:n.1253G>T
ENST00000675916.1:c.122G>T
ENST00000676173.1:n.2623G>T
ENST00000676182.1:c.309G>T
ENST00000676228.1:c.*1201G>T	ENSP00000502375.1:n.*1201G>T
ENST00000255078.7:c.1878G>T	ENSP00000255078.3:p.Leu626=
ENST00000539064.5:n.1637G>T
ENST00000543739.5:n.871G>T
ENST00000545475.1:n.474G>T
NM_002180.2:c.1878G>T , LRG_250t1:c.1878G>T	NP_002171.2:p.Leu626=
XM_005273974.2:c.867G>T	XP_005274031.1:p.Leu289=
XM_005273975.2:c.750G>T	XP_005274032.1:p.Leu250=
XM_011544994.1:c.645G>T	XP_011543296.1:p.Leu215=
XR_949903.1:n.1980G>T
XM_005273975.3:c.750G>T	XP_005274032.1:p.Leu250=
XM_017017669.2:c.867G>T	XP_016873158.1:p.Leu289=
XM_017017670.2:c.867G>T	XP_016873159.1:p.Leu289=
XR_949903.3:n.1976G>T
NM_002180.3:c.1878G>T MANE Select	NP_002171.2:p.Leu626=