Canonical Allele Identifier: CA475204286
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68703754C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936286C>G , CM000673.2:g.68936286C>G GRCh38
NC_000011.9:g.68703754C>G , CM000673.1:g.68703754C>G GRCh37
NC_000011.8:g.68460330C>G NCBI36
NG_007976.1:g.37436C>G , LRG_250:g.37436C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1806C>G MANE Select ENSP00000255078.4:p.Thr602=
ENST00000674675.1:c.50C>G
ENST00000674878.1:c.50C>G
ENST00000674955.1:c.*523C>G ENSP00000502463.1:n.*523C>G
ENST00000675118.1:c.1294C>G
ENST00000675389.1:n.81C>G
ENST00000675615.1:c.1806C>G ENSP00000502413.1:p.Thr602=
ENST00000675648.1:n.1181C>G
ENST00000675916.1:c.50C>G
ENST00000676173.1:n.2551C>G
ENST00000676182.1:c.237C>G
ENST00000676228.1:c.*1129C>G ENSP00000502375.1:n.*1129C>G
ENST00000255078.7:c.1806C>G ENSP00000255078.3:p.Thr602=
ENST00000539064.5:n.1565C>G
ENST00000541229.5:n.501C>G
ENST00000543739.5:n.799C>G
ENST00000545475.1:n.402C>G
NM_002180.2:c.1806C>G , LRG_250t1:c.1806C>G NP_002171.2:p.Thr602=
XM_005273974.2:c.795C>G XP_005274031.1:p.Thr265=
XM_005273975.2:c.678C>G XP_005274032.1:p.Thr226=
XM_011544994.1:c.573C>G XP_011543296.1:p.Thr191=
XR_949903.1:n.1908C>G
XM_005273975.3:c.678C>G XP_005274032.1:p.Thr226=
XM_017017669.2:c.795C>G XP_016873158.1:p.Thr265=
XM_017017670.2:c.795C>G XP_016873159.1:p.Thr265=
XR_949903.3:n.1904C>G
NM_002180.3:c.1806C>G MANE Select NP_002171.2:p.Thr602=