Canonical Allele Identifier: CA381653087

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1350069736
• gnomAD v4: 11-68936709-G-T
• MyVariant Identifiers: chr11:g.68704177G>T (hg19) ; chr11:g.68936709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936709G>T , CM000673.2:g.68936709G>T	GRCh38
NC_000011.9:g.68704177G>T , CM000673.1:g.68704177G>T	GRCh37
NC_000011.8:g.68460753G>T	NCBI36
NG_007976.1:g.37859G>T , LRG_250:g.37859G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2229G>T MANE Select	ENSP00000255078.4:p.Gln743His
ENST00000674675.1:c.473G>T
ENST00000674878.1:c.473G>T
ENST00000674955.1:c.*946G>T	ENSP00000502463.1:n.*946G>T
ENST00000675118.1:c.1717G>T
ENST00000675389.1:n.504G>T
ENST00000675615.1:c.2229G>T	ENSP00000502413.1:p.Gln743His
ENST00000675648.1:n.1604G>T
ENST00000675916.1:c.473G>T
ENST00000676173.1:n.2974G>T
ENST00000676182.1:c.660G>T
ENST00000676228.1:c.*1552G>T	ENSP00000502375.1:n.*1552G>T
ENST00000255078.7:c.2229G>T	ENSP00000255078.3:p.Gln743His
ENST00000539064.5:n.1988G>T
ENST00000543739.5:n.1222G>T
NM_002180.2:c.2229G>T , LRG_250t1:c.2229G>T	NP_002171.2:p.Gln743His
XM_005273974.2:c.1218G>T	XP_005274031.1:p.Gln406His
XM_005273975.2:c.1101G>T	XP_005274032.1:p.Gln367His
XM_011544994.1:c.996G>T	XP_011543296.1:p.Gln332His
XR_949903.1:n.2331G>T
XM_005273975.3:c.1101G>T	XP_005274032.1:p.Gln367His
XM_017017669.2:c.1218G>T	XP_016873158.1:p.Gln406His
XM_017017670.2:c.1218G>T	XP_016873159.1:p.Gln406His
XR_949903.3:n.2327G>T
NM_002180.3:c.2229G>T MANE Select	NP_002171.2:p.Gln743His