Canonical Allele Identifier: CA475280841
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1594456730
MyVariant Identifiers: chr11:g.68704330A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936862A>C , CM000673.2:g.68936862A>C GRCh38
NC_000011.9:g.68704330A>C , CM000673.1:g.68704330A>C GRCh37
NC_000011.8:g.68460906A>C NCBI36
NG_007976.1:g.38012A>C , LRG_250:g.38012A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2382A>C MANE Select ENSP00000255078.4:p.Gly794=
ENST00000674675.1:c.587+39A>C
ENST00000674878.1:c.548-61A>C
ENST00000675118.1:c.1870A>C
ENST00000675389.1:n.657A>C
ENST00000675615.1:c.2382A>C ENSP00000502413.1:p.Gly794=
ENST00000675648.1:n.1757A>C
ENST00000675916.1:c.626A>C
ENST00000676173.1:n.3127A>C
ENST00000676182.1:c.813A>C
ENST00000676228.1:c.*1705A>C ENSP00000502375.1:n.*1705A>C
ENST00000255078.7:c.2382A>C ENSP00000255078.3:p.Gly794=
ENST00000539064.5:n.2141A>C
ENST00000543739.5:n.1375A>C
NM_002180.2:c.2382A>C , LRG_250t1:c.2382A>C NP_002171.2:p.Gly794=
XM_005273974.2:c.1371A>C XP_005274031.1:p.Gly457=
XM_005273975.2:c.1254A>C XP_005274032.1:p.Gly418=
XM_011544994.1:c.1149A>C XP_011543296.1:p.Gly383=
XR_949903.1:n.2484A>C
XM_005273975.3:c.1254A>C XP_005274032.1:p.Gly418=
XM_017017669.2:c.1371A>C XP_016873158.1:p.Gly457=
XM_017017670.2:c.1371A>C XP_016873159.1:p.Gly457=
XR_949903.3:n.2480A>C
NM_002180.3:c.2382A>C MANE Select NP_002171.2:p.Gly794=