Canonical Allele Identifier: CA381650150

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701345C>A (hg19) ; chr11:g.68933877C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933877C>A , CM000673.2:g.68933877C>A	GRCh38
NC_000011.9:g.68701345C>A , CM000673.1:g.68701345C>A	GRCh37
NC_000011.8:g.68457921C>A	NCBI36
NG_007976.1:g.35027C>A , LRG_250:g.35027C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1501C>A MANE Select	ENSP00000255078.4:p.Leu501Met
ENST00000674955.1:c.*218C>A	ENSP00000502463.1:n.*218C>A
ENST00000675118.1:c.989C>A
ENST00000675205.1:n.183+396C>A
ENST00000675615.1:c.1501C>A	ENSP00000502413.1:p.Leu501Met
ENST00000675648.1:n.876C>A
ENST00000675997.1:n.113-587C>A
ENST00000676173.1:n.2246C>A
ENST00000676228.1:c.*824C>A	ENSP00000502375.1:n.*824C>A
ENST00000255078.7:c.1501C>A	ENSP00000255078.3:p.Leu501Met
ENST00000537458.5:n.618C>A
ENST00000539064.5:n.1260C>A
ENST00000541229.5:n.196C>A
ENST00000543739.5:n.618C>A
NM_002180.2:c.1501C>A , LRG_250t1:c.1501C>A	NP_002171.2:p.Leu501Met
XM_005273974.2:c.490C>A	XP_005274031.1:p.Leu164Met
XM_005273975.2:c.373C>A	XP_005274032.1:p.Leu125Met
XM_011544994.1:c.268C>A	XP_011543296.1:p.Leu90Met
XR_949903.1:n.1603C>A
XM_005273975.3:c.373C>A	XP_005274032.1:p.Leu125Met
XM_017017669.2:c.490C>A	XP_016873158.1:p.Leu164Met
XM_017017670.2:c.490C>A	XP_016873159.1:p.Leu164Met
XM_017017671.2:c.1501C>A	XP_016873160.1:p.Leu501Met
XR_949903.3:n.1599C>A
NM_002180.3:c.1501C>A MANE Select	NP_002171.2:p.Leu501Met