Canonical Allele Identifier: CA381643237
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908259T>G , CM000673.2:g.68908259T>G GRCh38
NC_000011.9:g.68675727T>G , CM000673.1:g.68675727T>G GRCh37
NC_000011.8:g.68432303T>G NCBI36
NG_007976.1:g.9409T>G , LRG_250:g.9409T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.371T>G MANE Select ENSP00000255078.4:p.Phe124Cys
ENST00000539224.2:c.334T>G
ENST00000674583.1:c.334T>G
ENST00000674597.1:c.182T>G
ENST00000674955.1:c.371T>G ENSP00000502463.1:p.Phe124Cys
ENST00000675142.1:n.334T>G
ENST00000675469.1:c.247T>G
ENST00000675615.1:c.371T>G ENSP00000502413.1:p.Phe124Cys
ENST00000675674.1:n.334T>G
ENST00000675873.1:c.334T>G
ENST00000676173.1:n.415T>G
ENST00000676228.1:c.371T>G ENSP00000502375.1:p.Phe124Cys
ENST00000255078.7:c.371T>G ENSP00000255078.3:p.Phe124Cys
ENST00000539224.1:c.371T>G ENSP00000440465.1:p.Phe124Cys
ENST00000544541.1:c.*111T>G ENSP00000443343.1:n.*111T>G
NM_002180.2:c.371T>G , LRG_250t1:c.371T>G NP_002171.2:p.Phe124Cys
XM_005273974.2:c.-641T>G XP_005274031.1:n.-641T>G
XM_005273976.1:c.371T>G XP_005274033.1:p.Phe124Cys
XR_247198.1:n.473T>G
XR_949903.1:n.473T>G
XM_005273976.2:c.371T>G XP_005274033.1:p.Phe124Cys
XM_017017669.2:c.-543T>G XP_016873158.1:n.-543T>G
XM_017017671.2:c.371T>G XP_016873160.1:p.Phe124Cys
XR_949903.3:n.469T>G
NM_002180.3:c.371T>G MANE Select NP_002171.2:p.Phe124Cys