Canonical Allele Identifier: CA381652576
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936468C>A , CM000673.2:g.68936468C>A GRCh38
NC_000011.9:g.68703936C>A , CM000673.1:g.68703936C>A GRCh37
NC_000011.8:g.68460512C>A NCBI36
NG_007976.1:g.37618C>A , LRG_250:g.37618C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1988C>A MANE Select ENSP00000255078.4:p.Ala663Asp
ENST00000674675.1:c.232C>A
ENST00000674878.1:c.232C>A
ENST00000674955.1:c.*705C>A ENSP00000502463.1:n.*705C>A
ENST00000675118.1:c.1476C>A
ENST00000675389.1:n.263C>A
ENST00000675615.1:c.1988C>A ENSP00000502413.1:p.Ala663Asp
ENST00000675648.1:n.1363C>A
ENST00000675916.1:c.232C>A
ENST00000676173.1:n.2733C>A
ENST00000676182.1:c.419C>A
ENST00000676228.1:c.*1311C>A ENSP00000502375.1:n.*1311C>A
ENST00000255078.7:c.1988C>A ENSP00000255078.3:p.Ala663Asp
ENST00000539064.5:n.1747C>A
ENST00000543739.5:n.981C>A
NM_002180.2:c.1988C>A , LRG_250t1:c.1988C>A NP_002171.2:p.Ala663Asp
XM_005273974.2:c.977C>A XP_005274031.1:p.Ala326Asp
XM_005273975.2:c.860C>A XP_005274032.1:p.Ala287Asp
XM_011544994.1:c.755C>A XP_011543296.1:p.Ala252Asp
XR_949903.1:n.2090C>A
XM_005273975.3:c.860C>A XP_005274032.1:p.Ala287Asp
XM_017017669.2:c.977C>A XP_016873158.1:p.Ala326Asp
XM_017017670.2:c.977C>A XP_016873159.1:p.Ala326Asp
XR_949903.3:n.2086C>A
NM_002180.3:c.1988C>A MANE Select NP_002171.2:p.Ala663Asp