Canonical Allele Identifier: CA381651661
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936314T>A , CM000673.2:g.68936314T>A GRCh38
NC_000011.9:g.68703782T>A , CM000673.1:g.68703782T>A GRCh37
NC_000011.8:g.68460358T>A NCBI36
NG_007976.1:g.37464T>A , LRG_250:g.37464T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1834T>A MANE Select ENSP00000255078.4:p.Cys612Ser
ENST00000674675.1:c.78T>A
ENST00000674878.1:c.78T>A
ENST00000674955.1:c.*551T>A ENSP00000502463.1:n.*551T>A
ENST00000675118.1:c.1322T>A
ENST00000675389.1:n.109T>A
ENST00000675615.1:c.1834T>A ENSP00000502413.1:p.Cys612Ser
ENST00000675648.1:n.1209T>A
ENST00000675916.1:c.78T>A
ENST00000676173.1:n.2579T>A
ENST00000676182.1:c.265T>A
ENST00000676228.1:c.*1157T>A ENSP00000502375.1:n.*1157T>A
ENST00000255078.7:c.1834T>A ENSP00000255078.3:p.Cys612Ser
ENST00000539064.5:n.1593T>A
ENST00000541229.5:n.529T>A
ENST00000543739.5:n.827T>A
ENST00000545475.1:n.430T>A
NM_002180.2:c.1834T>A , LRG_250t1:c.1834T>A NP_002171.2:p.Cys612Ser
XM_005273974.2:c.823T>A XP_005274031.1:p.Cys275Ser
XM_005273975.2:c.706T>A XP_005274032.1:p.Cys236Ser
XM_011544994.1:c.601T>A XP_011543296.1:p.Cys201Ser
XR_949903.1:n.1936T>A
XM_005273975.3:c.706T>A XP_005274032.1:p.Cys236Ser
XM_017017669.2:c.823T>A XP_016873158.1:p.Cys275Ser
XM_017017670.2:c.823T>A XP_016873159.1:p.Cys275Ser
XR_949903.3:n.1932T>A
NM_002180.3:c.1834T>A MANE Select NP_002171.2:p.Cys612Ser