Canonical Allele Identifier: CA381649456

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68700942C>G (hg19) ; chr11:g.68933474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933474C>G , CM000673.2:g.68933474C>G	GRCh38
NC_000011.9:g.68700942C>G , CM000673.1:g.68700942C>G	GRCh37
NC_000011.8:g.68457518C>G	NCBI36
NG_007976.1:g.34624C>G , LRG_250:g.34624C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1411C>G MANE Select	ENSP00000255078.4:p.Leu471Val
ENST00000536803.2:n.322C>G
ENST00000674955.1:c.*128C>G	ENSP00000502463.1:n.*128C>G
ENST00000675118.1:c.899C>G
ENST00000675205.1:n.176C>G
ENST00000675310.1:n.548C>G
ENST00000675615.1:c.1411C>G	ENSP00000502413.1:p.Leu471Val
ENST00000675648.1:n.786C>G
ENST00000675997.1:n.113-990C>G
ENST00000676149.1:n.485C>G
ENST00000676173.1:n.2156C>G
ENST00000676228.1:c.*734C>G	ENSP00000502375.1:n.*734C>G
ENST00000255078.7:c.1411C>G	ENSP00000255078.3:p.Leu471Val
ENST00000537458.5:n.528C>G
ENST00000539064.5:n.1170C>G
ENST00000543739.5:n.528C>G
NM_002180.2:c.1411C>G , LRG_250t1:c.1411C>G	NP_002171.2:p.Leu471Val
XM_005273974.2:c.400C>G	XP_005274031.1:p.Leu134Val
XM_005273975.2:c.283C>G	XP_005274032.1:p.Leu95Val
XM_011544994.1:c.178C>G	XP_011543296.1:p.Leu60Val
XR_949903.1:n.1513C>G
XM_005273975.3:c.283C>G	XP_005274032.1:p.Leu95Val
XM_017017669.2:c.400C>G	XP_016873158.1:p.Leu134Val
XM_017017670.2:c.400C>G	XP_016873159.1:p.Leu134Val
XM_017017671.2:c.1411C>G	XP_016873160.1:p.Leu471Val
XR_949903.3:n.1509C>G
NM_002180.3:c.1411C>G MANE Select	NP_002171.2:p.Leu471Val