Canonical Allele Identifier: CA475279489

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936577-G-A
• MyVariant Identifiers: chr11:g.68704045G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936577G>A , CM000673.2:g.68936577G>A	GRCh38
NC_000011.9:g.68704045G>A , CM000673.1:g.68704045G>A	GRCh37
NC_000011.8:g.68460621G>A	NCBI36
NG_007976.1:g.37727G>A , LRG_250:g.37727G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2097G>A MANE Select	ENSP00000255078.4:p.Gly699=
ENST00000674675.1:c.341G>A
ENST00000674878.1:c.341G>A
ENST00000674955.1:c.*814G>A	ENSP00000502463.1:n.*814G>A
ENST00000675118.1:c.1585G>A
ENST00000675389.1:n.372G>A
ENST00000675615.1:c.2097G>A	ENSP00000502413.1:p.Gly699=
ENST00000675648.1:n.1472G>A
ENST00000675916.1:c.341G>A
ENST00000676173.1:n.2842G>A
ENST00000676182.1:c.528G>A
ENST00000676228.1:c.*1420G>A	ENSP00000502375.1:n.*1420G>A
ENST00000255078.7:c.2097G>A	ENSP00000255078.3:p.Gly699=
ENST00000539064.5:n.1856G>A
ENST00000543739.5:n.1090G>A
NM_002180.2:c.2097G>A , LRG_250t1:c.2097G>A	NP_002171.2:p.Gly699=
XM_005273974.2:c.1086G>A	XP_005274031.1:p.Gly362=
XM_005273975.2:c.969G>A	XP_005274032.1:p.Gly323=
XM_011544994.1:c.864G>A	XP_011543296.1:p.Gly288=
XR_949903.1:n.2199G>A
XM_005273975.3:c.969G>A	XP_005274032.1:p.Gly323=
XM_017017669.2:c.1086G>A	XP_016873158.1:p.Gly362=
XM_017017670.2:c.1086G>A	XP_016873159.1:p.Gly362=
XR_949903.3:n.2195G>A
NM_002180.3:c.2097G>A MANE Select	NP_002171.2:p.Gly699=