Canonical Allele Identifier: CA381649607

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701268T>C (hg19) ; chr11:g.68933800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933800T>C , CM000673.2:g.68933800T>C	GRCh38
NC_000011.9:g.68701268T>C , CM000673.1:g.68701268T>C	GRCh37
NC_000011.8:g.68457844T>C	NCBI36
NG_007976.1:g.34950T>C , LRG_250:g.34950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1424T>C MANE Select	ENSP00000255078.4:p.Leu475Pro
ENST00000674955.1:c.*141T>C	ENSP00000502463.1:n.*141T>C
ENST00000675118.1:c.912T>C
ENST00000675205.1:n.183+319T>C
ENST00000675615.1:c.1424T>C	ENSP00000502413.1:p.Leu475Pro
ENST00000675648.1:n.799T>C
ENST00000675997.1:n.113-664T>C
ENST00000676173.1:n.2169T>C
ENST00000676228.1:c.*747T>C	ENSP00000502375.1:n.*747T>C
ENST00000255078.7:c.1424T>C	ENSP00000255078.3:p.Leu475Pro
ENST00000537458.5:n.541T>C
ENST00000539064.5:n.1183T>C
ENST00000541229.5:n.119T>C
ENST00000543739.5:n.541T>C
NM_002180.2:c.1424T>C , LRG_250t1:c.1424T>C	NP_002171.2:p.Leu475Pro
XM_005273974.2:c.413T>C	XP_005274031.1:p.Leu138Pro
XM_005273975.2:c.296T>C	XP_005274032.1:p.Leu99Pro
XM_011544994.1:c.191T>C	XP_011543296.1:p.Leu64Pro
XR_949903.1:n.1526T>C
XM_005273975.3:c.296T>C	XP_005274032.1:p.Leu99Pro
XM_017017669.2:c.413T>C	XP_016873158.1:p.Leu138Pro
XM_017017670.2:c.413T>C	XP_016873159.1:p.Leu138Pro
XM_017017671.2:c.1424T>C	XP_016873160.1:p.Leu475Pro
XR_949903.3:n.1522T>C
NM_002180.3:c.1424T>C MANE Select	NP_002171.2:p.Leu475Pro