Canonical Allele Identifier: CA381643184
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908237G>A , CM000673.2:g.68908237G>A GRCh38
NC_000011.9:g.68675705G>A , CM000673.1:g.68675705G>A GRCh37
NC_000011.8:g.68432281G>A NCBI36
NG_007976.1:g.9387G>A , LRG_250:g.9387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.349G>A MANE Select ENSP00000255078.4:p.Ala117Thr
ENST00000539224.2:c.312G>A
ENST00000674583.1:c.312G>A
ENST00000674597.1:c.160G>A
ENST00000674955.1:c.349G>A ENSP00000502463.1:p.Ala117Thr
ENST00000675142.1:n.312G>A
ENST00000675469.1:c.225G>A
ENST00000675615.1:c.349G>A ENSP00000502413.1:p.Ala117Thr
ENST00000675674.1:n.312G>A
ENST00000675873.1:c.312G>A
ENST00000676173.1:n.393G>A
ENST00000676228.1:c.349G>A ENSP00000502375.1:p.Ala117Thr
ENST00000255078.7:c.349G>A ENSP00000255078.3:p.Ala117Thr
ENST00000539224.1:c.349G>A ENSP00000440465.1:p.Ala117Thr
ENST00000544541.1:c.*89G>A ENSP00000443343.1:n.*89G>A
NM_002180.2:c.349G>A , LRG_250t1:c.349G>A NP_002171.2:p.Ala117Thr
XM_005273974.2:c.-663G>A XP_005274031.1:n.-663G>A
XM_005273976.1:c.349G>A XP_005274033.1:p.Ala117Thr
XR_247198.1:n.451G>A
XR_949903.1:n.451G>A
XM_005273976.2:c.349G>A XP_005274033.1:p.Ala117Thr
XM_017017669.2:c.-565G>A XP_016873158.1:n.-565G>A
XM_017017671.2:c.349G>A XP_016873160.1:p.Ala117Thr
XR_949903.3:n.447G>A
NM_002180.3:c.349G>A MANE Select NP_002171.2:p.Ala117Thr