Canonical Allele Identifier: CA6153626

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs778808308
• ExAC: 11:68700945 C / T
• gnomAD v2: 11-68700945-C-T
• gnomAD v4: 11-68933477-C-T
• MyVariant Identifiers: chr11:g.68700945C>T (hg19) ; chr11:g.68933477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933477C>T , CM000673.2:g.68933477C>T	GRCh38
NC_000011.9:g.68700945C>T , CM000673.1:g.68700945C>T	GRCh37
NC_000011.8:g.68457521C>T	NCBI36
NG_007976.1:g.34627C>T , LRG_250:g.34627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1414C>T MANE Select	ENSP00000255078.4:p.Leu472=
ENST00000536803.2:n.325C>T
ENST00000674955.1:c.*131C>T	ENSP00000502463.1:n.*131C>T
ENST00000675118.1:c.902C>T
ENST00000675205.1:n.179C>T
ENST00000675310.1:n.551C>T
ENST00000675615.1:c.1414C>T	ENSP00000502413.1:p.Leu472=
ENST00000675648.1:n.789C>T
ENST00000675997.1:n.113-987C>T
ENST00000676149.1:n.488C>T
ENST00000676173.1:n.2159C>T
ENST00000676228.1:c.*737C>T	ENSP00000502375.1:n.*737C>T
ENST00000255078.7:c.1414C>T	ENSP00000255078.3:p.Leu472=
ENST00000537458.5:n.531C>T
ENST00000539064.5:n.1173C>T
ENST00000543739.5:n.531C>T
NM_002180.2:c.1414C>T , LRG_250t1:c.1414C>T	NP_002171.2:p.Leu472=
XM_005273974.2:c.403C>T	XP_005274031.1:p.Leu135=
XM_005273975.2:c.286C>T	XP_005274032.1:p.Leu96=
XM_011544994.1:c.181C>T	XP_011543296.1:p.Leu61=
XR_949903.1:n.1516C>T
XM_005273975.3:c.286C>T	XP_005274032.1:p.Leu96=
XM_017017669.2:c.403C>T	XP_016873158.1:p.Leu135=
XM_017017670.2:c.403C>T	XP_016873159.1:p.Leu135=
XM_017017671.2:c.1414C>T	XP_016873160.1:p.Leu472=
XR_949903.3:n.1512C>T
NM_002180.3:c.1414C>T MANE Select	NP_002171.2:p.Leu472=