Canonical Allele Identifier: CA475201866
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68701374G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933906G>C , CM000673.2:g.68933906G>C GRCh38
NC_000011.9:g.68701374G>C , CM000673.1:g.68701374G>C GRCh37
NC_000011.8:g.68457950G>C NCBI36
NG_007976.1:g.35056G>C , LRG_250:g.35056G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1530G>C MANE Select ENSP00000255078.4:p.Gly510=
ENST00000674955.1:c.*247G>C ENSP00000502463.1:n.*247G>C
ENST00000675118.1:c.1018G>C
ENST00000675205.1:n.183+425G>C
ENST00000675615.1:c.1530G>C ENSP00000502413.1:p.Gly510=
ENST00000675648.1:n.905G>C
ENST00000675997.1:n.113-558G>C
ENST00000676173.1:n.2275G>C
ENST00000676228.1:c.*853G>C ENSP00000502375.1:n.*853G>C
ENST00000255078.7:c.1530G>C ENSP00000255078.3:p.Gly510=
ENST00000537458.5:n.647G>C
ENST00000539064.5:n.1289G>C
ENST00000541229.5:n.225G>C
ENST00000543739.5:n.647G>C
NM_002180.2:c.1530G>C , LRG_250t1:c.1530G>C NP_002171.2:p.Gly510=
XM_005273974.2:c.519G>C XP_005274031.1:p.Gly173=
XM_005273975.2:c.402G>C XP_005274032.1:p.Gly134=
XM_011544994.1:c.297G>C XP_011543296.1:p.Gly99=
XR_949903.1:n.1632G>C
XM_005273975.3:c.402G>C XP_005274032.1:p.Gly134=
XM_017017669.2:c.519G>C XP_016873158.1:p.Gly173=
XM_017017670.2:c.519G>C XP_016873159.1:p.Gly173=
XM_017017671.2:c.1530G>C XP_016873160.1:p.Gly510=
XR_949903.3:n.1628G>C
NM_002180.3:c.1530G>C MANE Select NP_002171.2:p.Gly510=