Canonical Allele Identifier: CA381653753

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936961-G-T
• MyVariant Identifiers: chr11:g.68704429G>T (hg19) ; chr11:g.68936961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936961G>T , CM000673.2:g.68936961G>T	GRCh38
NC_000011.9:g.68704429G>T , CM000673.1:g.68704429G>T	GRCh37
NC_000011.8:g.68461005G>T	NCBI36
NG_007976.1:g.38111G>T , LRG_250:g.38111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2481G>T MANE Select	ENSP00000255078.4:p.Gln827His
ENST00000674675.1:c.626G>T
ENST00000674878.1:c.586G>T
ENST00000675118.1:c.1969G>T
ENST00000675389.1:n.756G>T
ENST00000675615.1:c.2481G>T	ENSP00000502413.1:p.Gln827His
ENST00000675648.1:n.1856G>T
ENST00000675916.1:c.725G>T
ENST00000676173.1:n.3226G>T
ENST00000676182.1:c.912G>T
ENST00000676228.1:c.*1804G>T	ENSP00000502375.1:n.*1804G>T
ENST00000255078.7:c.2481G>T	ENSP00000255078.3:p.Gln827His
ENST00000539064.5:n.2240G>T
ENST00000543739.5:n.1474G>T
NM_002180.2:c.2481G>T , LRG_250t1:c.2481G>T	NP_002171.2:p.Gln827His
XM_005273974.2:c.1470G>T	XP_005274031.1:p.Gln490His
XM_005273975.2:c.1353G>T	XP_005274032.1:p.Gln451His
XM_011544994.1:c.1248G>T	XP_011543296.1:p.Gln416His
XR_949903.1:n.2583G>T
XM_005273975.3:c.1353G>T	XP_005274032.1:p.Gln451His
XM_017017669.2:c.1470G>T	XP_016873158.1:p.Gln490His
XM_017017670.2:c.1470G>T	XP_016873159.1:p.Gln490His
XR_949903.3:n.2579G>T
NM_002180.3:c.2481G>T MANE Select	NP_002171.2:p.Gln827His