Canonical Allele Identifier: CA475200885
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68701284C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933816C>A , CM000673.2:g.68933816C>A GRCh38
NC_000011.9:g.68701284C>A , CM000673.1:g.68701284C>A GRCh37
NC_000011.8:g.68457860C>A NCBI36
NG_007976.1:g.34966C>A , LRG_250:g.34966C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1440C>A MANE Select ENSP00000255078.4:p.Ala480=
ENST00000674955.1:c.*157C>A ENSP00000502463.1:n.*157C>A
ENST00000675118.1:c.928C>A
ENST00000675205.1:n.183+335C>A
ENST00000675615.1:c.1440C>A ENSP00000502413.1:p.Ala480=
ENST00000675648.1:n.815C>A
ENST00000675997.1:n.113-648C>A
ENST00000676173.1:n.2185C>A
ENST00000676228.1:c.*763C>A ENSP00000502375.1:n.*763C>A
ENST00000255078.7:c.1440C>A ENSP00000255078.3:p.Ala480=
ENST00000537458.5:n.557C>A
ENST00000539064.5:n.1199C>A
ENST00000541229.5:n.135C>A
ENST00000543739.5:n.557C>A
NM_002180.2:c.1440C>A , LRG_250t1:c.1440C>A NP_002171.2:p.Ala480=
XM_005273974.2:c.429C>A XP_005274031.1:p.Ala143=
XM_005273975.2:c.312C>A XP_005274032.1:p.Ala104=
XM_011544994.1:c.207C>A XP_011543296.1:p.Ala69=
XR_949903.1:n.1542C>A
XM_005273975.3:c.312C>A XP_005274032.1:p.Ala104=
XM_017017669.2:c.429C>A XP_016873158.1:p.Ala143=
XM_017017670.2:c.429C>A XP_016873159.1:p.Ala143=
XM_017017671.2:c.1440C>A XP_016873160.1:p.Ala480=
XR_949903.3:n.1538C>A
NM_002180.3:c.1440C>A MANE Select NP_002171.2:p.Ala480=