Canonical Allele Identifier: CA475279861
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1859542177
MyVariant Identifiers: chr11:g.68704099A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936631A>G , CM000673.2:g.68936631A>G GRCh38
NC_000011.9:g.68704099A>G , CM000673.1:g.68704099A>G GRCh37
NC_000011.8:g.68460675A>G NCBI36
NG_007976.1:g.37781A>G , LRG_250:g.37781A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2151A>G MANE Select ENSP00000255078.4:p.Pro717=
ENST00000674675.1:c.395A>G
ENST00000674878.1:c.395A>G
ENST00000674955.1:c.*868A>G ENSP00000502463.1:n.*868A>G
ENST00000675118.1:c.1639A>G
ENST00000675389.1:n.426A>G
ENST00000675615.1:c.2151A>G ENSP00000502413.1:p.Pro717=
ENST00000675648.1:n.1526A>G
ENST00000675916.1:c.395A>G
ENST00000676173.1:n.2896A>G
ENST00000676182.1:c.582A>G
ENST00000676228.1:c.*1474A>G ENSP00000502375.1:n.*1474A>G
ENST00000255078.7:c.2151A>G ENSP00000255078.3:p.Pro717=
ENST00000539064.5:n.1910A>G
ENST00000543739.5:n.1144A>G
NM_002180.2:c.2151A>G , LRG_250t1:c.2151A>G NP_002171.2:p.Pro717=
XM_005273974.2:c.1140A>G XP_005274031.1:p.Pro380=
XM_005273975.2:c.1023A>G XP_005274032.1:p.Pro341=
XM_011544994.1:c.918A>G XP_011543296.1:p.Pro306=
XR_949903.1:n.2253A>G
XM_005273975.3:c.1023A>G XP_005274032.1:p.Pro341=
XM_017017669.2:c.1140A>G XP_016873158.1:p.Pro380=
XM_017017670.2:c.1140A>G XP_016873159.1:p.Pro380=
XR_949903.3:n.2249A>G
NM_002180.3:c.2151A>G MANE Select NP_002171.2:p.Pro717=