Canonical Allele Identifier: CA475204393
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68703865C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936397C>T , CM000673.2:g.68936397C>T GRCh38
NC_000011.9:g.68703865C>T , CM000673.1:g.68703865C>T GRCh37
NC_000011.8:g.68460441C>T NCBI36
NG_007976.1:g.37547C>T , LRG_250:g.37547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1917C>T MANE Select ENSP00000255078.4:p.Ala639=
ENST00000674675.1:c.161C>T
ENST00000674878.1:c.161C>T
ENST00000674955.1:c.*634C>T ENSP00000502463.1:n.*634C>T
ENST00000675118.1:c.1405C>T
ENST00000675389.1:n.192C>T
ENST00000675615.1:c.1917C>T ENSP00000502413.1:p.Ala639=
ENST00000675648.1:n.1292C>T
ENST00000675916.1:c.161C>T
ENST00000676173.1:n.2662C>T
ENST00000676182.1:c.348C>T
ENST00000676228.1:c.*1240C>T ENSP00000502375.1:n.*1240C>T
ENST00000255078.7:c.1917C>T ENSP00000255078.3:p.Ala639=
ENST00000539064.5:n.1676C>T
ENST00000543739.5:n.910C>T
ENST00000545475.1:n.513C>T
NM_002180.2:c.1917C>T , LRG_250t1:c.1917C>T NP_002171.2:p.Ala639=
XM_005273974.2:c.906C>T XP_005274031.1:p.Ala302=
XM_005273975.2:c.789C>T XP_005274032.1:p.Ala263=
XM_011544994.1:c.684C>T XP_011543296.1:p.Ala228=
XR_949903.1:n.2019C>T
XM_005273975.3:c.789C>T XP_005274032.1:p.Ala263=
XM_017017669.2:c.906C>T XP_016873158.1:p.Ala302=
XM_017017670.2:c.906C>T XP_016873159.1:p.Ala302=
XR_949903.3:n.2015C>T
NM_002180.3:c.1917C>T MANE Select NP_002171.2:p.Ala639=