Canonical Allele Identifier: CA475201638
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68701336C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933868C>T , CM000673.2:g.68933868C>T GRCh38
NC_000011.9:g.68701336C>T , CM000673.1:g.68701336C>T GRCh37
NC_000011.8:g.68457912C>T NCBI36
NG_007976.1:g.35018C>T , LRG_250:g.35018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1492C>T MANE Select ENSP00000255078.4:p.Leu498=
ENST00000674955.1:c.*209C>T ENSP00000502463.1:n.*209C>T
ENST00000675118.1:c.980C>T
ENST00000675205.1:n.183+387C>T
ENST00000675615.1:c.1492C>T ENSP00000502413.1:p.Leu498=
ENST00000675648.1:n.867C>T
ENST00000675997.1:n.113-596C>T
ENST00000676173.1:n.2237C>T
ENST00000676228.1:c.*815C>T ENSP00000502375.1:n.*815C>T
ENST00000255078.7:c.1492C>T ENSP00000255078.3:p.Leu498=
ENST00000537458.5:n.609C>T
ENST00000539064.5:n.1251C>T
ENST00000541229.5:n.187C>T
ENST00000543739.5:n.609C>T
NM_002180.2:c.1492C>T , LRG_250t1:c.1492C>T NP_002171.2:p.Leu498=
XM_005273974.2:c.481C>T XP_005274031.1:p.Leu161=
XM_005273975.2:c.364C>T XP_005274032.1:p.Leu122=
XM_011544994.1:c.259C>T XP_011543296.1:p.Leu87=
XR_949903.1:n.1594C>T
XM_005273975.3:c.364C>T XP_005274032.1:p.Leu122=
XM_017017669.2:c.481C>T XP_016873158.1:p.Leu161=
XM_017017670.2:c.481C>T XP_016873159.1:p.Leu161=
XM_017017671.2:c.1492C>T XP_016873160.1:p.Leu498=
XR_949903.3:n.1590C>T
NM_002180.3:c.1492C>T MANE Select NP_002171.2:p.Leu498=