Canonical Allele Identifier: CA475192559
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68682366C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68914898C>T , CM000673.2:g.68914898C>T GRCh38
NC_000011.9:g.68682366C>T , CM000673.1:g.68682366C>T GRCh37
NC_000011.8:g.68438942C>T NCBI36
NG_007976.1:g.16048C>T , LRG_250:g.16048C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.787C>T MANE Select ENSP00000255078.4:p.Leu263=
ENST00000539224.2:c.916C>T
ENST00000674955.1:c.787C>T ENSP00000502463.1:p.Leu263=
ENST00000675118.1:c.134C>T
ENST00000675119.1:c.76C>T ENSP00000501861.1:p.Leu26=
ENST00000675305.1:c.76C>T ENSP00000502365.1:p.Leu26=
ENST00000675464.1:c.76C>T ENSP00000502650.1:p.Leu26=
ENST00000675615.1:c.787C>T ENSP00000502413.1:p.Leu263=
ENST00000675683.1:c.174C>T
ENST00000676173.1:n.831C>T
ENST00000676228.1:c.*110C>T ENSP00000502375.1:n.*110C>T
ENST00000676239.1:n.101C>T
ENST00000255078.7:c.787C>T ENSP00000255078.3:p.Leu263=
ENST00000539224.1:c.*110C>T ENSP00000440465.1:n.*110C>T
NM_002180.2:c.787C>T , LRG_250t1:c.787C>T NP_002171.2:p.Leu263=
XM_005273974.2:c.-225C>T XP_005274031.1:n.-225C>T
XM_005273976.1:c.787C>T XP_005274033.1:p.Leu263=
XR_247198.1:n.889C>T
XR_949903.1:n.889C>T
XM_005273976.2:c.787C>T XP_005274033.1:p.Leu263=
XM_017017669.2:c.-225C>T XP_016873158.1:n.-225C>T
XM_017017670.2:c.-225C>T XP_016873159.1:n.-225C>T
XM_017017671.2:c.787C>T XP_016873160.1:p.Leu263=
XR_949903.3:n.885C>T
NM_002180.3:c.787C>T MANE Select NP_002171.2:p.Leu263=