Canonical Allele Identifier: CA381643518
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908585A>G , CM000673.2:g.68908585A>G GRCh38
NC_000011.9:g.68676053A>G , CM000673.1:g.68676053A>G GRCh37
NC_000011.8:g.68432629A>G NCBI36
NG_007976.1:g.9735A>G , LRG_250:g.9735A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.501A>G MANE Select ENSP00000255078.4:p.Ile167Met
ENST00000539224.2:c.464A>G
ENST00000674583.1:c.464A>G
ENST00000674597.1:c.312A>G
ENST00000674955.1:c.501A>G ENSP00000502463.1:p.Ile167Met
ENST00000675142.1:n.464A>G
ENST00000675469.1:c.377A>G
ENST00000675615.1:c.501A>G ENSP00000502413.1:p.Ile167Met
ENST00000675674.1:n.464A>G
ENST00000675683.1:c.52A>G
ENST00000675873.1:c.464A>G
ENST00000676173.1:n.545A>G
ENST00000676228.1:c.449+248A>G ENSP00000502375.1:n.449+248A>G
ENST00000255078.7:c.501A>G ENSP00000255078.3:p.Ile167Met
ENST00000539224.1:c.449+248A>G ENSP00000440465.1:n.449+248A>G
ENST00000544541.1:c.*241A>G ENSP00000443343.1:n.*241A>G
NM_002180.2:c.501A>G , LRG_250t1:c.501A>G NP_002171.2:p.Ile167Met
XM_005273974.2:c.-511A>G XP_005274031.1:n.-511A>G
XM_005273976.1:c.501A>G XP_005274033.1:p.Ile167Met
XR_247198.1:n.603A>G
XR_949903.1:n.603A>G
XM_005273976.2:c.501A>G XP_005274033.1:p.Ile167Met
XM_017017669.2:c.-465+248A>G XP_016873158.1:n.-465+248A>G
XM_017017671.2:c.501A>G XP_016873160.1:p.Ile167Met
XR_949903.3:n.599A>G
NM_002180.3:c.501A>G MANE Select NP_002171.2:p.Ile167Met