Canonical Allele Identifier: CA475193808
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68682488C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68915020C>A , CM000673.2:g.68915020C>A GRCh38
NC_000011.9:g.68682488C>A , CM000673.1:g.68682488C>A GRCh37
NC_000011.8:g.68439064C>A NCBI36
NG_007976.1:g.16170C>A , LRG_250:g.16170C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.909C>A MANE Select ENSP00000255078.4:p.Val303=
ENST00000539224.2:c.1038C>A
ENST00000674955.1:c.909C>A ENSP00000502463.1:p.Val303=
ENST00000675118.1:c.256C>A
ENST00000675119.1:c.198C>A ENSP00000501861.1:p.Val66=
ENST00000675305.1:c.198C>A ENSP00000502365.1:p.Val66=
ENST00000675464.1:c.195+3C>A ENSP00000502650.1:n.195+3C>A
ENST00000675615.1:c.909C>A ENSP00000502413.1:p.Val303=
ENST00000675683.1:c.296C>A
ENST00000676173.1:n.953C>A
ENST00000676228.1:c.*232C>A ENSP00000502375.1:n.*232C>A
ENST00000676239.1:n.223C>A
ENST00000255078.7:c.909C>A ENSP00000255078.3:p.Val303=
NM_002180.2:c.909C>A , LRG_250t1:c.909C>A NP_002171.2:p.Val303=
XM_005273974.2:c.-103C>A XP_005274031.1:n.-103C>A
XM_005273976.1:c.909C>A XP_005274033.1:p.Val303=
XR_247198.1:n.1011C>A
XR_949903.1:n.1011C>A
XM_005273976.2:c.909C>A XP_005274033.1:p.Val303=
XM_017017669.2:c.-103C>A XP_016873158.1:n.-103C>A
XM_017017670.2:c.-103C>A XP_016873159.1:n.-103C>A
XM_017017671.2:c.909C>A XP_016873160.1:p.Val303=
XR_949903.3:n.1007C>A
NM_002180.3:c.909C>A MANE Select NP_002171.2:p.Val303=