Canonical Allele Identifier: CA381649439

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68700940A>T (hg19) ; chr11:g.68933472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933472A>T , CM000673.2:g.68933472A>T	GRCh38
NC_000011.9:g.68700940A>T , CM000673.1:g.68700940A>T	GRCh37
NC_000011.8:g.68457516A>T	NCBI36
NG_007976.1:g.34622A>T , LRG_250:g.34622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1409A>T MANE Select	ENSP00000255078.4:p.His470Leu
ENST00000536803.2:n.320A>T
ENST00000674955.1:c.*126A>T	ENSP00000502463.1:n.*126A>T
ENST00000675118.1:c.897A>T
ENST00000675205.1:n.174A>T
ENST00000675310.1:n.546A>T
ENST00000675615.1:c.1409A>T	ENSP00000502413.1:p.His470Leu
ENST00000675648.1:n.784A>T
ENST00000675997.1:n.113-992A>T
ENST00000676149.1:n.483A>T
ENST00000676173.1:n.2154A>T
ENST00000676228.1:c.*732A>T	ENSP00000502375.1:n.*732A>T
ENST00000255078.7:c.1409A>T	ENSP00000255078.3:p.His470Leu
ENST00000537458.5:n.526A>T
ENST00000539064.5:n.1168A>T
ENST00000543739.5:n.526A>T
NM_002180.2:c.1409A>T , LRG_250t1:c.1409A>T	NP_002171.2:p.His470Leu
XM_005273974.2:c.398A>T	XP_005274031.1:p.His133Leu
XM_005273975.2:c.281A>T	XP_005274032.1:p.His94Leu
XM_011544994.1:c.176A>T	XP_011543296.1:p.His59Leu
XR_949903.1:n.1511A>T
XM_005273975.3:c.281A>T	XP_005274032.1:p.His94Leu
XM_017017669.2:c.398A>T	XP_016873158.1:p.His133Leu
XM_017017670.2:c.398A>T	XP_016873159.1:p.His133Leu
XM_017017671.2:c.1409A>T	XP_016873160.1:p.His470Leu
XR_949903.3:n.1507A>T
NM_002180.3:c.1409A>T MANE Select	NP_002171.2:p.His470Leu