Canonical Allele Identifier: CA381643417
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908536C>A , CM000673.2:g.68908536C>A GRCh38
NC_000011.9:g.68676004C>A , CM000673.1:g.68676004C>A GRCh37
NC_000011.8:g.68432580C>A NCBI36
NG_007976.1:g.9686C>A , LRG_250:g.9686C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.452C>A MANE Select ENSP00000255078.4:p.Ala151Asp
ENST00000539224.2:c.415C>A
ENST00000674583.1:c.415C>A
ENST00000674597.1:c.263C>A
ENST00000674955.1:c.452C>A ENSP00000502463.1:p.Ala151Asp
ENST00000675142.1:n.415C>A
ENST00000675469.1:c.328C>A
ENST00000675615.1:c.452C>A ENSP00000502413.1:p.Ala151Asp
ENST00000675674.1:n.415C>A
ENST00000675683.1:c.3C>A
ENST00000675873.1:c.415C>A
ENST00000676173.1:n.496C>A
ENST00000676228.1:c.449+199C>A ENSP00000502375.1:n.449+199C>A
ENST00000255078.7:c.452C>A ENSP00000255078.3:p.Ala151Asp
ENST00000539224.1:c.449+199C>A ENSP00000440465.1:n.449+199C>A
ENST00000544541.1:c.*192C>A ENSP00000443343.1:n.*192C>A
NM_002180.2:c.452C>A , LRG_250t1:c.452C>A NP_002171.2:p.Ala151Asp
XM_005273974.2:c.-560C>A XP_005274031.1:n.-560C>A
XM_005273976.1:c.452C>A XP_005274033.1:p.Ala151Asp
XR_247198.1:n.554C>A
XR_949903.1:n.554C>A
XM_005273976.2:c.452C>A XP_005274033.1:p.Ala151Asp
XM_017017669.2:c.-465+199C>A XP_016873158.1:n.-465+199C>A
XM_017017671.2:c.452C>A XP_016873160.1:p.Ala151Asp
XR_949903.3:n.550C>A
NM_002180.3:c.452C>A MANE Select NP_002171.2:p.Ala151Asp