Canonical Allele Identifier: CA381652514
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936439T>A , CM000673.2:g.68936439T>A GRCh38
NC_000011.9:g.68703907T>A , CM000673.1:g.68703907T>A GRCh37
NC_000011.8:g.68460483T>A NCBI36
NG_007976.1:g.37589T>A , LRG_250:g.37589T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1959T>A MANE Select ENSP00000255078.4:p.His653Gln
ENST00000674675.1:c.203T>A
ENST00000674878.1:c.203T>A
ENST00000674955.1:c.*676T>A ENSP00000502463.1:n.*676T>A
ENST00000675118.1:c.1447T>A
ENST00000675389.1:n.234T>A
ENST00000675615.1:c.1959T>A ENSP00000502413.1:p.His653Gln
ENST00000675648.1:n.1334T>A
ENST00000675916.1:c.203T>A
ENST00000676173.1:n.2704T>A
ENST00000676182.1:c.390T>A
ENST00000676228.1:c.*1282T>A ENSP00000502375.1:n.*1282T>A
ENST00000255078.7:c.1959T>A ENSP00000255078.3:p.His653Gln
ENST00000539064.5:n.1718T>A
ENST00000543739.5:n.952T>A
ENST00000545475.1:n.555T>A
NM_002180.2:c.1959T>A , LRG_250t1:c.1959T>A NP_002171.2:p.His653Gln
XM_005273974.2:c.948T>A XP_005274031.1:p.His316Gln
XM_005273975.2:c.831T>A XP_005274032.1:p.His277Gln
XM_011544994.1:c.726T>A XP_011543296.1:p.His242Gln
XR_949903.1:n.2061T>A
XM_005273975.3:c.831T>A XP_005274032.1:p.His277Gln
XM_017017669.2:c.948T>A XP_016873158.1:p.His316Gln
XM_017017670.2:c.948T>A XP_016873159.1:p.His316Gln
XR_949903.3:n.2057T>A
NM_002180.3:c.1959T>A MANE Select NP_002171.2:p.His653Gln