Canonical Allele Identifier: CA381643207
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908247A>C , CM000673.2:g.68908247A>C GRCh38
NC_000011.9:g.68675715A>C , CM000673.1:g.68675715A>C GRCh37
NC_000011.8:g.68432291A>C NCBI36
NG_007976.1:g.9397A>C , LRG_250:g.9397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.359A>C MANE Select ENSP00000255078.4:p.Glu120Ala
ENST00000539224.2:c.322A>C
ENST00000674583.1:c.322A>C
ENST00000674597.1:c.170A>C
ENST00000674955.1:c.359A>C ENSP00000502463.1:p.Glu120Ala
ENST00000675142.1:n.322A>C
ENST00000675469.1:c.235A>C
ENST00000675615.1:c.359A>C ENSP00000502413.1:p.Glu120Ala
ENST00000675674.1:n.322A>C
ENST00000675873.1:c.322A>C
ENST00000676173.1:n.403A>C
ENST00000676228.1:c.359A>C ENSP00000502375.1:p.Glu120Ala
ENST00000255078.7:c.359A>C ENSP00000255078.3:p.Glu120Ala
ENST00000539224.1:c.359A>C ENSP00000440465.1:p.Glu120Ala
ENST00000544541.1:c.*99A>C ENSP00000443343.1:n.*99A>C
NM_002180.2:c.359A>C , LRG_250t1:c.359A>C NP_002171.2:p.Glu120Ala
XM_005273974.2:c.-653A>C XP_005274031.1:n.-653A>C
XM_005273976.1:c.359A>C XP_005274033.1:p.Glu120Ala
XR_247198.1:n.461A>C
XR_949903.1:n.461A>C
XM_005273976.2:c.359A>C XP_005274033.1:p.Glu120Ala
XM_017017669.2:c.-555A>C XP_016873158.1:n.-555A>C
XM_017017671.2:c.359A>C XP_016873160.1:p.Glu120Ala
XR_949903.3:n.457A>C
NM_002180.3:c.359A>C MANE Select NP_002171.2:p.Glu120Ala