Canonical Allele Identifier: CA475204403
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68703877T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936409T>A , CM000673.2:g.68936409T>A GRCh38
NC_000011.9:g.68703877T>A , CM000673.1:g.68703877T>A GRCh37
NC_000011.8:g.68460453T>A NCBI36
NG_007976.1:g.37559T>A , LRG_250:g.37559T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1929T>A MANE Select ENSP00000255078.4:p.Leu643=
ENST00000674675.1:c.173T>A
ENST00000674878.1:c.173T>A
ENST00000674955.1:c.*646T>A ENSP00000502463.1:n.*646T>A
ENST00000675118.1:c.1417T>A
ENST00000675389.1:n.204T>A
ENST00000675615.1:c.1929T>A ENSP00000502413.1:p.Leu643=
ENST00000675648.1:n.1304T>A
ENST00000675916.1:c.173T>A
ENST00000676173.1:n.2674T>A
ENST00000676182.1:c.360T>A
ENST00000676228.1:c.*1252T>A ENSP00000502375.1:n.*1252T>A
ENST00000255078.7:c.1929T>A ENSP00000255078.3:p.Leu643=
ENST00000539064.5:n.1688T>A
ENST00000543739.5:n.922T>A
ENST00000545475.1:n.525T>A
NM_002180.2:c.1929T>A , LRG_250t1:c.1929T>A NP_002171.2:p.Leu643=
XM_005273974.2:c.918T>A XP_005274031.1:p.Leu306=
XM_005273975.2:c.801T>A XP_005274032.1:p.Leu267=
XM_011544994.1:c.696T>A XP_011543296.1:p.Leu232=
XR_949903.1:n.2031T>A
XM_005273975.3:c.801T>A XP_005274032.1:p.Leu267=
XM_017017669.2:c.918T>A XP_016873158.1:p.Leu306=
XM_017017670.2:c.918T>A XP_016873159.1:p.Leu306=
XR_949903.3:n.2027T>A
NM_002180.3:c.1929T>A MANE Select NP_002171.2:p.Leu643=