Canonical Allele Identifier: CA10639942
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305836
dbSNP Id: rs76690064

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68914837C>A , CM000673.2:g.68914837C>A GRCh38
NC_000011.9:g.68682305C>A , CM000673.1:g.68682305C>A GRCh37
NC_000011.8:g.68438881C>A NCBI36
NG_007976.1:g.15987C>A , LRG_250:g.15987C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.726C>A MANE Select ENSP00000255078.4:p.Ala242=
ENST00000539224.2:c.855C>A
ENST00000674955.1:c.726C>A ENSP00000502463.1:p.Ala242=
ENST00000675118.1:c.73C>A
ENST00000675119.1:c.15C>A ENSP00000501861.1:p.Ala5=
ENST00000675305.1:c.15C>A ENSP00000502365.1:p.Ala5=
ENST00000675464.1:c.15C>A ENSP00000502650.1:p.Ala5=
ENST00000675615.1:c.726C>A ENSP00000502413.1:p.Ala242=
ENST00000675683.1:c.113C>A
ENST00000676173.1:n.770C>A
ENST00000676228.1:c.*49C>A ENSP00000502375.1:n.*49C>A
ENST00000676239.1:n.40C>A
ENST00000255078.7:c.726C>A ENSP00000255078.3:p.Ala242=
ENST00000539224.1:c.*49C>A ENSP00000440465.1:n.*49C>A
NM_002180.2:c.726C>A , LRG_250t1:c.726C>A NP_002171.2:p.Ala242=
XM_005273974.2:c.-286C>A XP_005274031.1:n.-286C>A
XM_005273976.1:c.726C>A XP_005274033.1:p.Ala242=
XR_247198.1:n.828C>A
XR_949903.1:n.828C>A
XM_005273976.2:c.726C>A XP_005274033.1:p.Ala242=
XM_017017669.2:c.-286C>A XP_016873158.1:n.-286C>A
XM_017017670.2:c.-286C>A XP_016873159.1:n.-286C>A
XM_017017671.2:c.726C>A XP_016873160.1:p.Ala242=
XR_949903.3:n.824C>A
NM_002180.3:c.726C>A MANE Select NP_002171.2:p.Ala242=