Canonical Allele Identifier: CA475204241
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68703724T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936256T>A , CM000673.2:g.68936256T>A GRCh38
NC_000011.9:g.68703724T>A , CM000673.1:g.68703724T>A GRCh37
NC_000011.8:g.68460300T>A NCBI36
NG_007976.1:g.37406T>A , LRG_250:g.37406T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1776T>A MANE Select ENSP00000255078.4:p.Ala592=
ENST00000674675.1:c.20T>A
ENST00000674878.1:c.20T>A
ENST00000674955.1:c.*493T>A ENSP00000502463.1:n.*493T>A
ENST00000675118.1:c.1264T>A
ENST00000675389.1:n.51T>A
ENST00000675615.1:c.1776T>A ENSP00000502413.1:p.Ala592=
ENST00000675648.1:n.1151T>A
ENST00000675916.1:c.20T>A
ENST00000676173.1:n.2521T>A
ENST00000676182.1:c.207T>A
ENST00000676228.1:c.*1099T>A ENSP00000502375.1:n.*1099T>A
ENST00000255078.7:c.1776T>A ENSP00000255078.3:p.Ala592=
ENST00000539064.5:n.1535T>A
ENST00000541229.5:n.471T>A
ENST00000543739.5:n.769T>A
ENST00000545475.1:n.372T>A
NM_002180.2:c.1776T>A , LRG_250t1:c.1776T>A NP_002171.2:p.Ala592=
XM_005273974.2:c.765T>A XP_005274031.1:p.Ala255=
XM_005273975.2:c.648T>A XP_005274032.1:p.Ala216=
XM_011544994.1:c.543T>A XP_011543296.1:p.Ala181=
XR_949903.1:n.1878T>A
XM_005273975.3:c.648T>A XP_005274032.1:p.Ala216=
XM_017017669.2:c.765T>A XP_016873158.1:p.Ala255=
XM_017017670.2:c.765T>A XP_016873159.1:p.Ala255=
XR_949903.3:n.1874T>A
NM_002180.3:c.1776T>A MANE Select NP_002171.2:p.Ala592=