Canonical Allele Identifier: CA381643258
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908269C>A , CM000673.2:g.68908269C>A GRCh38
NC_000011.9:g.68675737C>A , CM000673.1:g.68675737C>A GRCh37
NC_000011.8:g.68432313C>A NCBI36
NG_007976.1:g.9419C>A , LRG_250:g.9419C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.381C>A MANE Select ENSP00000255078.4:p.Ser127Arg
ENST00000539224.2:c.344C>A
ENST00000674583.1:c.344C>A
ENST00000674597.1:c.192C>A
ENST00000674955.1:c.381C>A ENSP00000502463.1:p.Ser127Arg
ENST00000675142.1:n.344C>A
ENST00000675469.1:c.257C>A
ENST00000675615.1:c.381C>A ENSP00000502413.1:p.Ser127Arg
ENST00000675674.1:n.344C>A
ENST00000675873.1:c.344C>A
ENST00000676173.1:n.425C>A
ENST00000676228.1:c.381C>A ENSP00000502375.1:p.Ser127Arg
ENST00000255078.7:c.381C>A ENSP00000255078.3:p.Ser127Arg
ENST00000539224.1:c.381C>A ENSP00000440465.1:p.Ser127Arg
ENST00000544541.1:c.*121C>A ENSP00000443343.1:n.*121C>A
NM_002180.2:c.381C>A , LRG_250t1:c.381C>A NP_002171.2:p.Ser127Arg
XM_005273974.2:c.-631C>A XP_005274031.1:n.-631C>A
XM_005273976.1:c.381C>A XP_005274033.1:p.Ser127Arg
XR_247198.1:n.483C>A
XR_949903.1:n.483C>A
XM_005273976.2:c.381C>A XP_005274033.1:p.Ser127Arg
XM_017017669.2:c.-533C>A XP_016873158.1:n.-533C>A
XM_017017671.2:c.381C>A XP_016873160.1:p.Ser127Arg
XR_949903.3:n.479C>A
NM_002180.3:c.381C>A MANE Select NP_002171.2:p.Ser127Arg