Canonical Allele Identifier: CA475204373
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68703841A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936373A>C , CM000673.2:g.68936373A>C GRCh38
NC_000011.9:g.68703841A>C , CM000673.1:g.68703841A>C GRCh37
NC_000011.8:g.68460417A>C NCBI36
NG_007976.1:g.37523A>C , LRG_250:g.37523A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1893A>C MANE Select ENSP00000255078.4:p.Thr631=
ENST00000674675.1:c.137A>C
ENST00000674878.1:c.137A>C
ENST00000674955.1:c.*610A>C ENSP00000502463.1:n.*610A>C
ENST00000675118.1:c.1381A>C
ENST00000675389.1:n.168A>C
ENST00000675615.1:c.1893A>C ENSP00000502413.1:p.Thr631=
ENST00000675648.1:n.1268A>C
ENST00000675916.1:c.137A>C
ENST00000676173.1:n.2638A>C
ENST00000676182.1:c.324A>C
ENST00000676228.1:c.*1216A>C ENSP00000502375.1:n.*1216A>C
ENST00000255078.7:c.1893A>C ENSP00000255078.3:p.Thr631=
ENST00000539064.5:n.1652A>C
ENST00000543739.5:n.886A>C
ENST00000545475.1:n.489A>C
NM_002180.2:c.1893A>C , LRG_250t1:c.1893A>C NP_002171.2:p.Thr631=
XM_005273974.2:c.882A>C XP_005274031.1:p.Thr294=
XM_005273975.2:c.765A>C XP_005274032.1:p.Thr255=
XM_011544994.1:c.660A>C XP_011543296.1:p.Thr220=
XR_949903.1:n.1995A>C
XM_005273975.3:c.765A>C XP_005274032.1:p.Thr255=
XM_017017669.2:c.882A>C XP_016873158.1:p.Thr294=
XM_017017670.2:c.882A>C XP_016873159.1:p.Thr294=
XR_949903.3:n.1991A>C
NM_002180.3:c.1893A>C MANE Select NP_002171.2:p.Thr631=