Canonical Allele Identifier: CA381649848

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701306C>A (hg19) ; chr11:g.68933838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933838C>A , CM000673.2:g.68933838C>A	GRCh38
NC_000011.9:g.68701306C>A , CM000673.1:g.68701306C>A	GRCh37
NC_000011.8:g.68457882C>A	NCBI36
NG_007976.1:g.34988C>A , LRG_250:g.34988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1462C>A MANE Select	ENSP00000255078.4:p.Leu488Met
ENST00000674955.1:c.*179C>A	ENSP00000502463.1:n.*179C>A
ENST00000675118.1:c.950C>A
ENST00000675205.1:n.183+357C>A
ENST00000675615.1:c.1462C>A	ENSP00000502413.1:p.Leu488Met
ENST00000675648.1:n.837C>A
ENST00000675997.1:n.113-626C>A
ENST00000676173.1:n.2207C>A
ENST00000676228.1:c.*785C>A	ENSP00000502375.1:n.*785C>A
ENST00000255078.7:c.1462C>A	ENSP00000255078.3:p.Leu488Met
ENST00000537458.5:n.579C>A
ENST00000539064.5:n.1221C>A
ENST00000541229.5:n.157C>A
ENST00000543739.5:n.579C>A
NM_002180.2:c.1462C>A , LRG_250t1:c.1462C>A	NP_002171.2:p.Leu488Met
XM_005273974.2:c.451C>A	XP_005274031.1:p.Leu151Met
XM_005273975.2:c.334C>A	XP_005274032.1:p.Leu112Met
XM_011544994.1:c.229C>A	XP_011543296.1:p.Leu77Met
XR_949903.1:n.1564C>A
XM_005273975.3:c.334C>A	XP_005274032.1:p.Leu112Met
XM_017017669.2:c.451C>A	XP_016873158.1:p.Leu151Met
XM_017017670.2:c.451C>A	XP_016873159.1:p.Leu151Met
XM_017017671.2:c.1462C>A	XP_016873160.1:p.Leu488Met
XR_949903.3:n.1560C>A
NM_002180.3:c.1462C>A MANE Select	NP_002171.2:p.Leu488Met