Canonical Allele Identifier: CA381649781

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701293G>T (hg19) ; chr11:g.68933825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933825G>T , CM000673.2:g.68933825G>T	GRCh38
NC_000011.9:g.68701293G>T , CM000673.1:g.68701293G>T	GRCh37
NC_000011.8:g.68457869G>T	NCBI36
NG_007976.1:g.34975G>T , LRG_250:g.34975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1449G>T MANE Select	ENSP00000255078.4:p.Glu483Asp
ENST00000674955.1:c.*166G>T	ENSP00000502463.1:n.*166G>T
ENST00000675118.1:c.937G>T
ENST00000675205.1:n.183+344G>T
ENST00000675615.1:c.1449G>T	ENSP00000502413.1:p.Glu483Asp
ENST00000675648.1:n.824G>T
ENST00000675997.1:n.113-639G>T
ENST00000676173.1:n.2194G>T
ENST00000676228.1:c.*772G>T	ENSP00000502375.1:n.*772G>T
ENST00000255078.7:c.1449G>T	ENSP00000255078.3:p.Glu483Asp
ENST00000537458.5:n.566G>T
ENST00000539064.5:n.1208G>T
ENST00000541229.5:n.144G>T
ENST00000543739.5:n.566G>T
NM_002180.2:c.1449G>T , LRG_250t1:c.1449G>T	NP_002171.2:p.Glu483Asp
XM_005273974.2:c.438G>T	XP_005274031.1:p.Glu146Asp
XM_005273975.2:c.321G>T	XP_005274032.1:p.Glu107Asp
XM_011544994.1:c.216G>T	XP_011543296.1:p.Glu72Asp
XR_949903.1:n.1551G>T
XM_005273975.3:c.321G>T	XP_005274032.1:p.Glu107Asp
XM_017017669.2:c.438G>T	XP_016873158.1:p.Glu146Asp
XM_017017670.2:c.438G>T	XP_016873159.1:p.Glu146Asp
XM_017017671.2:c.1449G>T	XP_016873160.1:p.Glu483Asp
XR_949903.3:n.1547G>T
NM_002180.3:c.1449G>T MANE Select	NP_002171.2:p.Glu483Asp