Canonical Allele Identifier: CA475187877
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68676050C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908582C>A , CM000673.2:g.68908582C>A GRCh38
NC_000011.9:g.68676050C>A , CM000673.1:g.68676050C>A GRCh37
NC_000011.8:g.68432626C>A NCBI36
NG_007976.1:g.9732C>A , LRG_250:g.9732C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.498C>A MANE Select ENSP00000255078.4:p.Leu166=
ENST00000539224.2:c.461C>A
ENST00000674583.1:c.461C>A
ENST00000674597.1:c.309C>A
ENST00000674955.1:c.498C>A ENSP00000502463.1:p.Leu166=
ENST00000675142.1:n.461C>A
ENST00000675469.1:c.374C>A
ENST00000675615.1:c.498C>A ENSP00000502413.1:p.Leu166=
ENST00000675674.1:n.461C>A
ENST00000675683.1:c.49C>A
ENST00000675873.1:c.461C>A
ENST00000676173.1:n.542C>A
ENST00000676228.1:c.449+245C>A ENSP00000502375.1:n.449+245C>A
ENST00000255078.7:c.498C>A ENSP00000255078.3:p.Leu166=
ENST00000539224.1:c.449+245C>A ENSP00000440465.1:n.449+245C>A
ENST00000544541.1:c.*238C>A ENSP00000443343.1:n.*238C>A
NM_002180.2:c.498C>A , LRG_250t1:c.498C>A NP_002171.2:p.Leu166=
XM_005273974.2:c.-514C>A XP_005274031.1:n.-514C>A
XM_005273976.1:c.498C>A XP_005274033.1:p.Leu166=
XR_247198.1:n.600C>A
XR_949903.1:n.600C>A
XM_005273976.2:c.498C>A XP_005274033.1:p.Leu166=
XM_017017669.2:c.-465+245C>A XP_016873158.1:n.-465+245C>A
XM_017017671.2:c.498C>A XP_016873160.1:p.Leu166=
XR_949903.3:n.596C>A
NM_002180.3:c.498C>A MANE Select NP_002171.2:p.Leu166=