Canonical Allele Identifier: CA475280813
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704310C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936842C>A , CM000673.2:g.68936842C>A GRCh38
NC_000011.9:g.68704310C>A , CM000673.1:g.68704310C>A GRCh37
NC_000011.8:g.68460886C>A NCBI36
NG_007976.1:g.37992C>A , LRG_250:g.37992C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2362C>A MANE Select ENSP00000255078.4:p.Arg788=
ENST00000674675.1:c.587+19C>A
ENST00000674878.1:c.547+59C>A
ENST00000674955.1:c.*1079C>A ENSP00000502463.1:n.*1079C>A
ENST00000675118.1:c.1850C>A
ENST00000675389.1:n.637C>A
ENST00000675615.1:c.2362C>A ENSP00000502413.1:p.Arg788=
ENST00000675648.1:n.1737C>A
ENST00000675916.1:c.606C>A
ENST00000676173.1:n.3107C>A
ENST00000676182.1:c.793C>A
ENST00000676228.1:c.*1685C>A ENSP00000502375.1:n.*1685C>A
ENST00000255078.7:c.2362C>A ENSP00000255078.3:p.Arg788=
ENST00000539064.5:n.2121C>A
ENST00000543739.5:n.1355C>A
NM_002180.2:c.2362C>A , LRG_250t1:c.2362C>A NP_002171.2:p.Arg788=
XM_005273974.2:c.1351C>A XP_005274031.1:p.Arg451=
XM_005273975.2:c.1234C>A XP_005274032.1:p.Arg412=
XM_011544994.1:c.1129C>A XP_011543296.1:p.Arg377=
XR_949903.1:n.2464C>A
XM_005273975.3:c.1234C>A XP_005274032.1:p.Arg412=
XM_017017669.2:c.1351C>A XP_016873158.1:p.Arg451=
XM_017017670.2:c.1351C>A XP_016873159.1:p.Arg451=
XR_949903.3:n.2460C>A
NM_002180.3:c.2362C>A MANE Select NP_002171.2:p.Arg788=