Canonical Allele Identifier: CA381644738
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917746A>G , CM000673.2:g.68917746A>G GRCh38
NC_000011.9:g.68685214A>G , CM000673.1:g.68685214A>G GRCh37
NC_000011.8:g.68441790A>G NCBI36
NG_007976.1:g.18896A>G , LRG_250:g.18896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.923A>G MANE Select ENSP00000255078.4:p.Lys308Arg
ENST00000539224.2:c.1052A>G
ENST00000674745.1:c.11A>G ENSP00000502738.1:p.Lys4Arg
ENST00000674775.1:n.11A>G
ENST00000674955.1:c.923A>G ENSP00000502463.1:p.Lys308Arg
ENST00000675118.1:c.411A>G
ENST00000675119.1:c.350A>G ENSP00000501861.1:n.350A>G
ENST00000675305.1:c.243A>G ENSP00000502365.1:n.243A>G
ENST00000675464.1:c.206A>G ENSP00000502650.1:p.Lys69Arg
ENST00000675493.1:n.11A>G
ENST00000675615.1:c.923A>G ENSP00000502413.1:p.Lys308Arg
ENST00000675648.1:n.298A>G
ENST00000675683.1:c.310A>G
ENST00000675684.1:c.11A>G ENSP00000502192.1:p.Lys4Arg
ENST00000676173.1:n.967A>G
ENST00000676228.1:c.*246A>G ENSP00000502375.1:n.*246A>G
ENST00000255078.7:c.923A>G ENSP00000255078.3:p.Lys308Arg
NM_002180.2:c.923A>G , LRG_250t1:c.923A>G NP_002171.2:p.Lys308Arg
XM_005273974.2:c.-89A>G XP_005274031.1:n.-89A>G
XM_005273976.1:c.923A>G XP_005274033.1:p.Lys308Arg
XR_247198.1:n.1025A>G
XR_949903.1:n.1025A>G
XM_005273976.2:c.923A>G XP_005274033.1:p.Lys308Arg
XM_017017669.2:c.-89A>G XP_016873158.1:n.-89A>G
XM_017017670.2:c.-89A>G XP_016873159.1:n.-89A>G
XM_017017671.2:c.923A>G XP_016873160.1:p.Lys308Arg
XR_949903.3:n.1021A>G
NM_002180.3:c.923A>G MANE Select NP_002171.2:p.Lys308Arg