Canonical Allele Identifier: CA381650364

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 846020
• ClinVar RCV Id: RCV001049214
• dbSNP Id: rs1859418981
• MyVariant Identifiers: chr11:g.68701375A>T (hg19) ; chr11:g.68933907A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933907A>T , CM000673.2:g.68933907A>T	GRCh38
NC_000011.9:g.68701375A>T , CM000673.1:g.68701375A>T	GRCh37
NC_000011.8:g.68457951A>T	NCBI36
NG_007976.1:g.35057A>T , LRG_250:g.35057A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1531A>T MANE Select	ENSP00000255078.4:p.Asn511Tyr
ENST00000674955.1:c.*248A>T	ENSP00000502463.1:n.*248A>T
ENST00000675118.1:c.1019A>T
ENST00000675205.1:n.183+426A>T
ENST00000675615.1:c.1531A>T	ENSP00000502413.1:p.Asn511Tyr
ENST00000675648.1:n.906A>T
ENST00000675997.1:n.113-557A>T
ENST00000676173.1:n.2276A>T
ENST00000676228.1:c.*854A>T	ENSP00000502375.1:n.*854A>T
ENST00000255078.7:c.1531A>T	ENSP00000255078.3:p.Asn511Tyr
ENST00000537458.5:n.648A>T
ENST00000539064.5:n.1290A>T
ENST00000541229.5:n.226A>T
ENST00000543739.5:n.648A>T
NM_002180.2:c.1531A>T , LRG_250t1:c.1531A>T	NP_002171.2:p.Asn511Tyr
XM_005273974.2:c.520A>T	XP_005274031.1:p.Asn174Tyr
XM_005273975.2:c.403A>T	XP_005274032.1:p.Asn135Tyr
XM_011544994.1:c.298A>T	XP_011543296.1:p.Asn100Tyr
XR_949903.1:n.1633A>T
XM_005273975.3:c.403A>T	XP_005274032.1:p.Asn135Tyr
XM_017017669.2:c.520A>T	XP_016873158.1:p.Asn174Tyr
XM_017017670.2:c.520A>T	XP_016873159.1:p.Asn174Tyr
XM_017017671.2:c.1531A>T	XP_016873160.1:p.Asn511Tyr
XR_949903.3:n.1629A>T
NM_002180.3:c.1531A>T MANE Select	NP_002171.2:p.Asn511Tyr