Canonical Allele Identifier: CA381650286

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701366T>A (hg19) ; chr11:g.68933898T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933898T>A , CM000673.2:g.68933898T>A	GRCh38
NC_000011.9:g.68701366T>A , CM000673.1:g.68701366T>A	GRCh37
NC_000011.8:g.68457942T>A	NCBI36
NG_007976.1:g.35048T>A , LRG_250:g.35048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1522T>A MANE Select	ENSP00000255078.4:p.Ser508Thr
ENST00000674955.1:c.*239T>A	ENSP00000502463.1:n.*239T>A
ENST00000675118.1:c.1010T>A
ENST00000675205.1:n.183+417T>A
ENST00000675615.1:c.1522T>A	ENSP00000502413.1:p.Ser508Thr
ENST00000675648.1:n.897T>A
ENST00000675997.1:n.113-566T>A
ENST00000676173.1:n.2267T>A
ENST00000676228.1:c.*845T>A	ENSP00000502375.1:n.*845T>A
ENST00000255078.7:c.1522T>A	ENSP00000255078.3:p.Ser508Thr
ENST00000537458.5:n.639T>A
ENST00000539064.5:n.1281T>A
ENST00000541229.5:n.217T>A
ENST00000543739.5:n.639T>A
NM_002180.2:c.1522T>A , LRG_250t1:c.1522T>A	NP_002171.2:p.Ser508Thr
XM_005273974.2:c.511T>A	XP_005274031.1:p.Ser171Thr
XM_005273975.2:c.394T>A	XP_005274032.1:p.Ser132Thr
XM_011544994.1:c.289T>A	XP_011543296.1:p.Ser97Thr
XR_949903.1:n.1624T>A
XM_005273975.3:c.394T>A	XP_005274032.1:p.Ser132Thr
XM_017017669.2:c.511T>A	XP_016873158.1:p.Ser171Thr
XM_017017670.2:c.511T>A	XP_016873159.1:p.Ser171Thr
XM_017017671.2:c.1522T>A	XP_016873160.1:p.Ser508Thr
XR_949903.3:n.1620T>A
NM_002180.3:c.1522T>A MANE Select	NP_002171.2:p.Ser508Thr