Canonical Allele Identifier: CA475194990
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1858727231
MyVariant Identifiers: chr11:g.68685272A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.981A>G MANE Select ENSP00000255078.4:p.Arg327=
ENST00000674745.1:c.69A>G ENSP00000502738.1:p.Arg23=
ENST00000674775.1:n.69A>G
ENST00000674955.1:c.981A>G ENSP00000502463.1:p.Arg327=
ENST00000675118.1:c.469A>G
ENST00000675119.1:c.408A>G ENSP00000501861.1:n.408A>G
ENST00000675305.1:c.301A>G ENSP00000502365.1:n.301A>G
ENST00000675464.1:c.264A>G ENSP00000502650.1:p.Arg88=
ENST00000675493.1:n.69A>G
ENST00000675615.1:c.981A>G ENSP00000502413.1:p.Arg327=
ENST00000675648.1:n.356A>G
ENST00000675683.1:c.368A>G
ENST00000675684.1:c.69A>G ENSP00000502192.1:p.Arg23=
ENST00000676173.1:n.1025A>G
ENST00000676228.1:c.*304A>G ENSP00000502375.1:n.*304A>G
ENST00000255078.7:c.981A>G ENSP00000255078.3:p.Arg327=
NM_002180.2:c.981A>G , LRG_250t1:c.981A>G NP_002171.2:p.Arg327=
XM_005273974.2:c.-31A>G XP_005274031.1:n.-31A>G
XM_005273976.1:c.981A>G XP_005274033.1:p.Arg327=
XR_247198.1:n.1083A>G
XR_949903.1:n.1083A>G
XM_005273976.2:c.981A>G XP_005274033.1:p.Arg327=
XM_017017669.2:c.-31A>G XP_016873158.1:n.-31A>G
XM_017017670.2:c.-31A>G XP_016873159.1:n.-31A>G
XM_017017671.2:c.981A>G XP_016873160.1:p.Arg327=
XR_949903.3:n.1079A>G
NM_002180.3:c.981A>G MANE Select NP_002171.2:p.Arg327=