Canonical Allele Identifier: CA6153412
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 234714
dbSNP Id: rs200566598

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68914968G>A , CM000673.2:g.68914968G>A GRCh38
NC_000011.9:g.68682436G>A , CM000673.1:g.68682436G>A GRCh37
NC_000011.8:g.68439012G>A NCBI36
NG_007976.1:g.16118G>A , LRG_250:g.16118G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.857G>A MANE Select ENSP00000255078.4:p.Arg286Gln
ENST00000539224.2:c.986G>A
ENST00000674955.1:c.857G>A ENSP00000502463.1:p.Arg286Gln
ENST00000675118.1:c.204G>A
ENST00000675119.1:c.146G>A ENSP00000501861.1:p.Arg49Gln
ENST00000675305.1:c.146G>A ENSP00000502365.1:p.Arg49Gln
ENST00000675464.1:c.146G>A ENSP00000502650.1:p.Arg49Gln
ENST00000675615.1:c.857G>A ENSP00000502413.1:p.Arg286Gln
ENST00000675683.1:c.244G>A
ENST00000676173.1:n.901G>A
ENST00000676228.1:c.*180G>A ENSP00000502375.1:n.*180G>A
ENST00000676239.1:n.171G>A
ENST00000255078.7:c.857G>A ENSP00000255078.3:p.Arg286Gln
NM_002180.2:c.857G>A , LRG_250t1:c.857G>A NP_002171.2:p.Arg286Gln
XM_005273974.2:c.-155G>A XP_005274031.1:n.-155G>A
XM_005273976.1:c.857G>A XP_005274033.1:p.Arg286Gln
XR_247198.1:n.959G>A
XR_949903.1:n.959G>A
XM_005273976.2:c.857G>A XP_005274033.1:p.Arg286Gln
XM_017017669.2:c.-155G>A XP_016873158.1:n.-155G>A
XM_017017670.2:c.-155G>A XP_016873159.1:n.-155G>A
XM_017017671.2:c.857G>A XP_016873160.1:p.Arg286Gln
XR_949903.3:n.955G>A
NM_002180.3:c.857G>A MANE Select NP_002171.2:p.Arg286Gln