Canonical Allele Identifier: CA381649497
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933481G>T , CM000673.2:g.68933481G>T GRCh38
NC_000011.9:g.68700949G>T , CM000673.1:g.68700949G>T GRCh37
NC_000011.8:g.68457525G>T NCBI36
NG_007976.1:g.34631G>T , LRG_250:g.34631G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1418G>T MANE Select ENSP00000255078.4:p.Arg473Met
ENST00000536803.2:n.329G>T
ENST00000674955.1:c.*135G>T ENSP00000502463.1:n.*135G>T
ENST00000675118.1:c.906G>T
ENST00000675205.1:n.183G>T
ENST00000675310.1:n.555G>T
ENST00000675615.1:c.1418G>T ENSP00000502413.1:p.Arg473Met
ENST00000675648.1:n.793G>T
ENST00000675997.1:n.113-983G>T
ENST00000676149.1:n.492G>T
ENST00000676173.1:n.2163G>T
ENST00000676228.1:c.*741G>T ENSP00000502375.1:n.*741G>T
ENST00000255078.7:c.1418G>T ENSP00000255078.3:p.Arg473Met
ENST00000537458.5:n.535G>T
ENST00000539064.5:n.1177G>T
ENST00000543739.5:n.535G>T
NM_002180.2:c.1418G>T , LRG_250t1:c.1418G>T NP_002171.2:p.Arg473Met
XM_005273974.2:c.407G>T XP_005274031.1:p.Arg136Met
XM_005273975.2:c.290G>T XP_005274032.1:p.Arg97Met
XM_011544994.1:c.185G>T XP_011543296.1:p.Arg62Met
XR_949903.1:n.1520G>T
XM_005273975.3:c.290G>T XP_005274032.1:p.Arg97Met
XM_017017669.2:c.407G>T XP_016873158.1:p.Arg136Met
XM_017017670.2:c.407G>T XP_016873159.1:p.Arg136Met
XM_017017671.2:c.1418G>T XP_016873160.1:p.Arg473Met
XR_949903.3:n.1516G>T
NM_002180.3:c.1418G>T MANE Select NP_002171.2:p.Arg473Met