Canonical Allele Identifier: CA381643253
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908267A>G , CM000673.2:g.68908267A>G GRCh38
NC_000011.9:g.68675735A>G , CM000673.1:g.68675735A>G GRCh37
NC_000011.8:g.68432311A>G NCBI36
NG_007976.1:g.9417A>G , LRG_250:g.9417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.379A>G MANE Select ENSP00000255078.4:p.Ser127Gly
ENST00000539224.2:c.342A>G
ENST00000674583.1:c.342A>G
ENST00000674597.1:c.190A>G
ENST00000674955.1:c.379A>G ENSP00000502463.1:p.Ser127Gly
ENST00000675142.1:n.342A>G
ENST00000675469.1:c.255A>G
ENST00000675615.1:c.379A>G ENSP00000502413.1:p.Ser127Gly
ENST00000675674.1:n.342A>G
ENST00000675873.1:c.342A>G
ENST00000676173.1:n.423A>G
ENST00000676228.1:c.379A>G ENSP00000502375.1:p.Ser127Gly
ENST00000255078.7:c.379A>G ENSP00000255078.3:p.Ser127Gly
ENST00000539224.1:c.379A>G ENSP00000440465.1:p.Ser127Gly
ENST00000544541.1:c.*119A>G ENSP00000443343.1:n.*119A>G
NM_002180.2:c.379A>G , LRG_250t1:c.379A>G NP_002171.2:p.Ser127Gly
XM_005273974.2:c.-633A>G XP_005274031.1:n.-633A>G
XM_005273976.1:c.379A>G XP_005274033.1:p.Ser127Gly
XR_247198.1:n.481A>G
XR_949903.1:n.481A>G
XM_005273976.2:c.379A>G XP_005274033.1:p.Ser127Gly
XM_017017669.2:c.-535A>G XP_016873158.1:n.-535A>G
XM_017017671.2:c.379A>G XP_016873160.1:p.Ser127Gly
XR_949903.3:n.477A>G
NM_002180.3:c.379A>G MANE Select NP_002171.2:p.Ser127Gly