Canonical Allele Identifier: CA381652031
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936410G>A , CM000673.2:g.68936410G>A GRCh38
NC_000011.9:g.68703878G>A , CM000673.1:g.68703878G>A GRCh37
NC_000011.8:g.68460454G>A NCBI36
NG_007976.1:g.37560G>A , LRG_250:g.37560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1930G>A MANE Select ENSP00000255078.4:p.Asp644Asn
ENST00000674675.1:c.174G>A
ENST00000674878.1:c.174G>A
ENST00000674955.1:c.*647G>A ENSP00000502463.1:n.*647G>A
ENST00000675118.1:c.1418G>A
ENST00000675389.1:n.205G>A
ENST00000675615.1:c.1930G>A ENSP00000502413.1:p.Asp644Asn
ENST00000675648.1:n.1305G>A
ENST00000675916.1:c.174G>A
ENST00000676173.1:n.2675G>A
ENST00000676182.1:c.361G>A
ENST00000676228.1:c.*1253G>A ENSP00000502375.1:n.*1253G>A
ENST00000255078.7:c.1930G>A ENSP00000255078.3:p.Asp644Asn
ENST00000539064.5:n.1689G>A
ENST00000543739.5:n.923G>A
ENST00000545475.1:n.526G>A
NM_002180.2:c.1930G>A , LRG_250t1:c.1930G>A NP_002171.2:p.Asp644Asn
XM_005273974.2:c.919G>A XP_005274031.1:p.Asp307Asn
XM_005273975.2:c.802G>A XP_005274032.1:p.Asp268Asn
XM_011544994.1:c.697G>A XP_011543296.1:p.Asp233Asn
XR_949903.1:n.2032G>A
XM_005273975.3:c.802G>A XP_005274032.1:p.Asp268Asn
XM_017017669.2:c.919G>A XP_016873158.1:p.Asp307Asn
XM_017017670.2:c.919G>A XP_016873159.1:p.Asp307Asn
XR_949903.3:n.2028G>A
NM_002180.3:c.1930G>A MANE Select NP_002171.2:p.Asp644Asn