Canonical Allele Identifier: CA381653036
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936689A>C , CM000673.2:g.68936689A>C GRCh38
NC_000011.9:g.68704157A>C , CM000673.1:g.68704157A>C GRCh37
NC_000011.8:g.68460733A>C NCBI36
NG_007976.1:g.37839A>C , LRG_250:g.37839A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2209A>C MANE Select ENSP00000255078.4:p.Met737Leu
ENST00000674675.1:c.453A>C
ENST00000674878.1:c.453A>C
ENST00000674955.1:c.*926A>C ENSP00000502463.1:n.*926A>C
ENST00000675118.1:c.1697A>C
ENST00000675389.1:n.484A>C
ENST00000675615.1:c.2209A>C ENSP00000502413.1:p.Met737Leu
ENST00000675648.1:n.1584A>C
ENST00000675916.1:c.453A>C
ENST00000676173.1:n.2954A>C
ENST00000676182.1:c.640A>C
ENST00000676228.1:c.*1532A>C ENSP00000502375.1:n.*1532A>C
ENST00000255078.7:c.2209A>C ENSP00000255078.3:p.Met737Leu
ENST00000539064.5:n.1968A>C
ENST00000543739.5:n.1202A>C
NM_002180.2:c.2209A>C , LRG_250t1:c.2209A>C NP_002171.2:p.Met737Leu
XM_005273974.2:c.1198A>C XP_005274031.1:p.Met400Leu
XM_005273975.2:c.1081A>C XP_005274032.1:p.Met361Leu
XM_011544994.1:c.976A>C XP_011543296.1:p.Met326Leu
XR_949903.1:n.2311A>C
XM_005273975.3:c.1081A>C XP_005274032.1:p.Met361Leu
XM_017017669.2:c.1198A>C XP_016873158.1:p.Met400Leu
XM_017017670.2:c.1198A>C XP_016873159.1:p.Met400Leu
XR_949903.3:n.2307A>C
NM_002180.3:c.2209A>C MANE Select NP_002171.2:p.Met737Leu