Canonical Allele Identifier: CA381650387
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933913G>A , CM000673.2:g.68933913G>A GRCh38
NC_000011.9:g.68701381G>A , CM000673.1:g.68701381G>A GRCh37
NC_000011.8:g.68457957G>A NCBI36
NG_007976.1:g.35063G>A , LRG_250:g.35063G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1537G>A MANE Select ENSP00000255078.4:p.Gly513Ser
ENST00000674955.1:c.*254G>A ENSP00000502463.1:n.*254G>A
ENST00000675118.1:c.1025G>A
ENST00000675205.1:n.183+432G>A
ENST00000675615.1:c.1537G>A ENSP00000502413.1:p.Gly513Ser
ENST00000675648.1:n.912G>A
ENST00000675997.1:n.113-551G>A
ENST00000676173.1:n.2282G>A
ENST00000676228.1:c.*860G>A ENSP00000502375.1:n.*860G>A
ENST00000255078.7:c.1537G>A ENSP00000255078.3:p.Gly513Ser
ENST00000537458.5:n.654G>A
ENST00000539064.5:n.1296G>A
ENST00000541229.5:n.232G>A
ENST00000543739.5:n.654G>A
NM_002180.2:c.1537G>A , LRG_250t1:c.1537G>A NP_002171.2:p.Gly513Ser
XM_005273974.2:c.526G>A XP_005274031.1:p.Gly176Ser
XM_005273975.2:c.409G>A XP_005274032.1:p.Gly137Ser
XM_011544994.1:c.304G>A XP_011543296.1:p.Gly102Ser
XR_949903.1:n.1639G>A
XM_005273975.3:c.409G>A XP_005274032.1:p.Gly137Ser
XM_017017669.2:c.526G>A XP_016873158.1:p.Gly176Ser
XM_017017670.2:c.526G>A XP_016873159.1:p.Gly176Ser
XM_017017671.2:c.1537G>A XP_016873160.1:p.Gly513Ser
XR_949903.3:n.1635G>A
NM_002180.3:c.1537G>A MANE Select NP_002171.2:p.Gly513Ser