Canonical Allele Identifier: CA381644885

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685279C>A (hg19) ; chr11:g.68917811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917811C>A , CM000673.2:g.68917811C>A	GRCh38
NC_000011.9:g.68685279C>A , CM000673.1:g.68685279C>A	GRCh37
NC_000011.8:g.68441855C>A	NCBI36
NG_007976.1:g.18961C>A , LRG_250:g.18961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.988C>A MANE Select	ENSP00000255078.4:p.Leu330Met
ENST00000674745.1:c.76C>A	ENSP00000502738.1:p.Leu26Met
ENST00000674775.1:n.76C>A
ENST00000674955.1:c.988C>A	ENSP00000502463.1:p.Leu330Met
ENST00000675118.1:c.476C>A
ENST00000675119.1:c.415C>A	ENSP00000501861.1:n.415C>A
ENST00000675305.1:c.308C>A	ENSP00000502365.1:n.308C>A
ENST00000675464.1:c.271C>A	ENSP00000502650.1:p.Leu91Met
ENST00000675493.1:n.76C>A
ENST00000675615.1:c.988C>A	ENSP00000502413.1:p.Leu330Met
ENST00000675648.1:n.363C>A
ENST00000675683.1:c.375C>A
ENST00000675684.1:c.76C>A	ENSP00000502192.1:p.Leu26Met
ENST00000676173.1:n.1032C>A
ENST00000676228.1:c.*311C>A	ENSP00000502375.1:n.*311C>A
ENST00000255078.7:c.988C>A	ENSP00000255078.3:p.Leu330Met
NM_002180.2:c.988C>A , LRG_250t1:c.988C>A	NP_002171.2:p.Leu330Met
XM_005273974.2:c.-24C>A	XP_005274031.1:n.-24C>A
XM_005273976.1:c.988C>A	XP_005274033.1:p.Leu330Met
XR_247198.1:n.1090C>A
XR_949903.1:n.1090C>A
XM_005273976.2:c.988C>A	XP_005274033.1:p.Leu330Met
XM_017017669.2:c.-24C>A	XP_016873158.1:n.-24C>A
XM_017017670.2:c.-24C>A	XP_016873159.1:n.-24C>A
XM_017017671.2:c.988C>A	XP_016873160.1:p.Leu330Met
XR_949903.3:n.1086C>A
NM_002180.3:c.988C>A MANE Select	NP_002171.2:p.Leu330Met