Canonical Allele Identifier: CA6153670
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs756493997

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933886G>A , CM000673.2:g.68933886G>A GRCh38
NC_000011.9:g.68701354G>A , CM000673.1:g.68701354G>A GRCh37
NC_000011.8:g.68457930G>A NCBI36
NG_007976.1:g.35036G>A , LRG_250:g.35036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1510G>A MANE Select ENSP00000255078.4:p.Glu504Lys
ENST00000674955.1:c.*227G>A ENSP00000502463.1:n.*227G>A
ENST00000675118.1:c.998G>A
ENST00000675205.1:n.183+405G>A
ENST00000675615.1:c.1510G>A ENSP00000502413.1:p.Glu504Lys
ENST00000675648.1:n.885G>A
ENST00000675997.1:n.113-578G>A
ENST00000676173.1:n.2255G>A
ENST00000676228.1:c.*833G>A ENSP00000502375.1:n.*833G>A
ENST00000255078.7:c.1510G>A ENSP00000255078.3:p.Glu504Lys
ENST00000537458.5:n.627G>A
ENST00000539064.5:n.1269G>A
ENST00000541229.5:n.205G>A
ENST00000543739.5:n.627G>A
NM_002180.2:c.1510G>A , LRG_250t1:c.1510G>A NP_002171.2:p.Glu504Lys
XM_005273974.2:c.499G>A XP_005274031.1:p.Glu167Lys
XM_005273975.2:c.382G>A XP_005274032.1:p.Glu128Lys
XM_011544994.1:c.277G>A XP_011543296.1:p.Glu93Lys
XR_949903.1:n.1612G>A
XM_005273975.3:c.382G>A XP_005274032.1:p.Glu128Lys
XM_017017669.2:c.499G>A XP_016873158.1:p.Glu167Lys
XM_017017670.2:c.499G>A XP_016873159.1:p.Glu167Lys
XM_017017671.2:c.1510G>A XP_016873160.1:p.Glu504Lys
XR_949903.3:n.1608G>A
NM_002180.3:c.1510G>A MANE Select NP_002171.2:p.Glu504Lys