Canonical Allele Identifier: CA381644869
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917804A>C , CM000673.2:g.68917804A>C GRCh38
NC_000011.9:g.68685272A>C , CM000673.1:g.68685272A>C GRCh37
NC_000011.8:g.68441848A>C NCBI36
NG_007976.1:g.18954A>C , LRG_250:g.18954A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.981A>C MANE Select ENSP00000255078.4:p.Arg327Ser
ENST00000674745.1:c.69A>C ENSP00000502738.1:p.Arg23Ser
ENST00000674775.1:n.69A>C
ENST00000674955.1:c.981A>C ENSP00000502463.1:p.Arg327Ser
ENST00000675118.1:c.469A>C
ENST00000675119.1:c.408A>C ENSP00000501861.1:n.408A>C
ENST00000675305.1:c.301A>C ENSP00000502365.1:n.301A>C
ENST00000675464.1:c.264A>C ENSP00000502650.1:p.Arg88Ser
ENST00000675493.1:n.69A>C
ENST00000675615.1:c.981A>C ENSP00000502413.1:p.Arg327Ser
ENST00000675648.1:n.356A>C
ENST00000675683.1:c.368A>C
ENST00000675684.1:c.69A>C ENSP00000502192.1:p.Arg23Ser
ENST00000676173.1:n.1025A>C
ENST00000676228.1:c.*304A>C ENSP00000502375.1:n.*304A>C
ENST00000255078.7:c.981A>C ENSP00000255078.3:p.Arg327Ser
NM_002180.2:c.981A>C , LRG_250t1:c.981A>C NP_002171.2:p.Arg327Ser
XM_005273974.2:c.-31A>C XP_005274031.1:n.-31A>C
XM_005273976.1:c.981A>C XP_005274033.1:p.Arg327Ser
XR_247198.1:n.1083A>C
XR_949903.1:n.1083A>C
XM_005273976.2:c.981A>C XP_005274033.1:p.Arg327Ser
XM_017017669.2:c.-31A>C XP_016873158.1:n.-31A>C
XM_017017670.2:c.-31A>C XP_016873159.1:n.-31A>C
XM_017017671.2:c.981A>C XP_016873160.1:p.Arg327Ser
XR_949903.3:n.1079A>C
NM_002180.3:c.981A>C MANE Select NP_002171.2:p.Arg327Ser