Canonical Allele Identifier: CA381643019

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68675621G>T (hg19) ; chr11:g.68908153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908153G>T , CM000673.2:g.68908153G>T	GRCh38
NC_000011.9:g.68675621G>T , CM000673.1:g.68675621G>T	GRCh37
NC_000011.8:g.68432197G>T	NCBI36
NG_007976.1:g.9303G>T , LRG_250:g.9303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.265G>T MANE Select	ENSP00000255078.4:p.Val89Leu
ENST00000539224.2:c.228G>T
ENST00000674583.1:c.228G>T
ENST00000674597.1:c.76G>T
ENST00000674955.1:c.265G>T	ENSP00000502463.1:p.Val89Leu
ENST00000675142.1:n.228G>T
ENST00000675469.1:c.141G>T
ENST00000675615.1:c.265G>T	ENSP00000502413.1:p.Val89Leu
ENST00000675674.1:n.228G>T
ENST00000675873.1:c.228G>T
ENST00000676173.1:n.309G>T
ENST00000676228.1:c.265G>T	ENSP00000502375.1:p.Val89Leu
ENST00000255078.7:c.265G>T	ENSP00000255078.3:p.Val89Leu
ENST00000539224.1:c.265G>T	ENSP00000440465.1:p.Val89Leu
ENST00000544541.1:c.*5G>T	ENSP00000443343.1:n.*5G>T
ENST00000545146.1:c.*135G>T	ENSP00000456366.1:n.*135G>T
NM_002180.2:c.265G>T , LRG_250t1:c.265G>T	NP_002171.2:p.Val89Leu
XM_005273974.2:c.-747G>T	XP_005274031.1:n.-747G>T
XM_005273976.1:c.265G>T	XP_005274033.1:p.Val89Leu
XR_247198.1:n.367G>T
XR_949903.1:n.367G>T
XM_005273976.2:c.265G>T	XP_005274033.1:p.Val89Leu
XM_017017669.2:c.-649G>T	XP_016873158.1:n.-649G>T
XM_017017671.2:c.265G>T	XP_016873160.1:p.Val89Leu
XR_949903.3:n.363G>T
NM_002180.3:c.265G>T MANE Select	NP_002171.2:p.Val89Leu