Canonical Allele Identifier: CA475193517
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68682437G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68914969G>C , CM000673.2:g.68914969G>C GRCh38
NC_000011.9:g.68682437G>C , CM000673.1:g.68682437G>C GRCh37
NC_000011.8:g.68439013G>C NCBI36
NG_007976.1:g.16119G>C , LRG_250:g.16119G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.858G>C MANE Select ENSP00000255078.4:p.Arg286=
ENST00000539224.2:c.987G>C
ENST00000674955.1:c.858G>C ENSP00000502463.1:p.Arg286=
ENST00000675118.1:c.205G>C
ENST00000675119.1:c.147G>C ENSP00000501861.1:p.Arg49=
ENST00000675305.1:c.147G>C ENSP00000502365.1:p.Arg49=
ENST00000675464.1:c.147G>C ENSP00000502650.1:p.Arg49=
ENST00000675615.1:c.858G>C ENSP00000502413.1:p.Arg286=
ENST00000675683.1:c.245G>C
ENST00000676173.1:n.902G>C
ENST00000676228.1:c.*181G>C ENSP00000502375.1:n.*181G>C
ENST00000676239.1:n.172G>C
ENST00000255078.7:c.858G>C ENSP00000255078.3:p.Arg286=
NM_002180.2:c.858G>C , LRG_250t1:c.858G>C NP_002171.2:p.Arg286=
XM_005273974.2:c.-154G>C XP_005274031.1:n.-154G>C
XM_005273976.1:c.858G>C XP_005274033.1:p.Arg286=
XR_247198.1:n.960G>C
XR_949903.1:n.960G>C
XM_005273976.2:c.858G>C XP_005274033.1:p.Arg286=
XM_017017669.2:c.-154G>C XP_016873158.1:n.-154G>C
XM_017017670.2:c.-154G>C XP_016873159.1:n.-154G>C
XM_017017671.2:c.858G>C XP_016873160.1:p.Arg286=
XR_949903.3:n.956G>C
NM_002180.3:c.858G>C MANE Select NP_002171.2:p.Arg286=