Canonical Allele Identifier: CA381649939
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933852C>G , CM000673.2:g.68933852C>G GRCh38
NC_000011.9:g.68701320C>G , CM000673.1:g.68701320C>G GRCh37
NC_000011.8:g.68457896C>G NCBI36
NG_007976.1:g.35002C>G , LRG_250:g.35002C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1476C>G MANE Select ENSP00000255078.4:p.Asp492Glu
ENST00000674955.1:c.*193C>G ENSP00000502463.1:n.*193C>G
ENST00000675118.1:c.964C>G
ENST00000675205.1:n.183+371C>G
ENST00000675615.1:c.1476C>G ENSP00000502413.1:p.Asp492Glu
ENST00000675648.1:n.851C>G
ENST00000675997.1:n.113-612C>G
ENST00000676173.1:n.2221C>G
ENST00000676228.1:c.*799C>G ENSP00000502375.1:n.*799C>G
ENST00000255078.7:c.1476C>G ENSP00000255078.3:p.Asp492Glu
ENST00000537458.5:n.593C>G
ENST00000539064.5:n.1235C>G
ENST00000541229.5:n.171C>G
ENST00000543739.5:n.593C>G
NM_002180.2:c.1476C>G , LRG_250t1:c.1476C>G NP_002171.2:p.Asp492Glu
XM_005273974.2:c.465C>G XP_005274031.1:p.Asp155Glu
XM_005273975.2:c.348C>G XP_005274032.1:p.Asp116Glu
XM_011544994.1:c.243C>G XP_011543296.1:p.Asp81Glu
XR_949903.1:n.1578C>G
XM_005273975.3:c.348C>G XP_005274032.1:p.Asp116Glu
XM_017017669.2:c.465C>G XP_016873158.1:p.Asp155Glu
XM_017017670.2:c.465C>G XP_016873159.1:p.Asp155Glu
XM_017017671.2:c.1476C>G XP_016873160.1:p.Asp492Glu
XR_949903.3:n.1574C>G
NM_002180.3:c.1476C>G MANE Select NP_002171.2:p.Asp492Glu