Canonical Allele Identifier: CA475204407
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 466588
dbSNP Id: rs1555247978

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936418T>C , CM000673.2:g.68936418T>C GRCh38
NC_000011.9:g.68703886T>C , CM000673.1:g.68703886T>C GRCh37
NC_000011.8:g.68460462T>C NCBI36
NG_007976.1:g.37568T>C , LRG_250:g.37568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1938T>C MANE Select ENSP00000255078.4:p.Ile646=
ENST00000674675.1:c.182T>C
ENST00000674878.1:c.182T>C
ENST00000674955.1:c.*655T>C ENSP00000502463.1:n.*655T>C
ENST00000675118.1:c.1426T>C
ENST00000675389.1:n.213T>C
ENST00000675615.1:c.1938T>C ENSP00000502413.1:p.Ile646=
ENST00000675648.1:n.1313T>C
ENST00000675916.1:c.182T>C
ENST00000676173.1:n.2683T>C
ENST00000676182.1:c.369T>C
ENST00000676228.1:c.*1261T>C ENSP00000502375.1:n.*1261T>C
ENST00000255078.7:c.1938T>C ENSP00000255078.3:p.Ile646=
ENST00000539064.5:n.1697T>C
ENST00000543739.5:n.931T>C
ENST00000545475.1:n.534T>C
NM_002180.2:c.1938T>C , LRG_250t1:c.1938T>C NP_002171.2:p.Ile646=
XM_005273974.2:c.927T>C XP_005274031.1:p.Ile309=
XM_005273975.2:c.810T>C XP_005274032.1:p.Ile270=
XM_011544994.1:c.705T>C XP_011543296.1:p.Ile235=
XR_949903.1:n.2040T>C
XM_005273975.3:c.810T>C XP_005274032.1:p.Ile270=
XM_017017669.2:c.927T>C XP_016873158.1:p.Ile309=
XM_017017670.2:c.927T>C XP_016873159.1:p.Ile309=
XR_949903.3:n.2036T>C
NM_002180.3:c.1938T>C MANE Select NP_002171.2:p.Ile646=