Canonical Allele Identifier: CA475279645
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704066T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936598T>G , CM000673.2:g.68936598T>G GRCh38
NC_000011.9:g.68704066T>G , CM000673.1:g.68704066T>G GRCh37
NC_000011.8:g.68460642T>G NCBI36
NG_007976.1:g.37748T>G , LRG_250:g.37748T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2118T>G MANE Select ENSP00000255078.4:p.Ala706=
ENST00000674675.1:c.362T>G
ENST00000674878.1:c.362T>G
ENST00000674955.1:c.*835T>G ENSP00000502463.1:n.*835T>G
ENST00000675118.1:c.1606T>G
ENST00000675389.1:n.393T>G
ENST00000675615.1:c.2118T>G ENSP00000502413.1:p.Ala706=
ENST00000675648.1:n.1493T>G
ENST00000675916.1:c.362T>G
ENST00000676173.1:n.2863T>G
ENST00000676182.1:c.549T>G
ENST00000676228.1:c.*1441T>G ENSP00000502375.1:n.*1441T>G
ENST00000255078.7:c.2118T>G ENSP00000255078.3:p.Ala706=
ENST00000539064.5:n.1877T>G
ENST00000543739.5:n.1111T>G
NM_002180.2:c.2118T>G , LRG_250t1:c.2118T>G NP_002171.2:p.Ala706=
XM_005273974.2:c.1107T>G XP_005274031.1:p.Ala369=
XM_005273975.2:c.990T>G XP_005274032.1:p.Ala330=
XM_011544994.1:c.885T>G XP_011543296.1:p.Ala295=
XR_949903.1:n.2220T>G
XM_005273975.3:c.990T>G XP_005274032.1:p.Ala330=
XM_017017669.2:c.1107T>G XP_016873158.1:p.Ala369=
XM_017017670.2:c.1107T>G XP_016873159.1:p.Ala369=
XR_949903.3:n.2216T>G
NM_002180.3:c.2118T>G MANE Select NP_002171.2:p.Ala706=