Canonical Allele Identifier: CA6153873
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 534937
dbSNP Id: rs149684358

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936766C>T , CM000673.2:g.68936766C>T GRCh38
NC_000011.9:g.68704234C>T , CM000673.1:g.68704234C>T GRCh37
NC_000011.8:g.68460810C>T NCBI36
NG_007976.1:g.37916C>T , LRG_250:g.37916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2286C>T MANE Select ENSP00000255078.4:p.Ala762=
ENST00000674675.1:c.530C>T
ENST00000674878.1:c.530C>T
ENST00000674955.1:c.*1003C>T ENSP00000502463.1:n.*1003C>T
ENST00000675118.1:c.1774C>T
ENST00000675389.1:n.561C>T
ENST00000675615.1:c.2286C>T ENSP00000502413.1:p.Ala762=
ENST00000675648.1:n.1661C>T
ENST00000675916.1:c.530C>T
ENST00000676173.1:n.3031C>T
ENST00000676182.1:c.717C>T
ENST00000676228.1:c.*1609C>T ENSP00000502375.1:n.*1609C>T
ENST00000255078.7:c.2286C>T ENSP00000255078.3:p.Ala762=
ENST00000539064.5:n.2045C>T
ENST00000543739.5:n.1279C>T
NM_002180.2:c.2286C>T , LRG_250t1:c.2286C>T NP_002171.2:p.Ala762=
XM_005273974.2:c.1275C>T XP_005274031.1:p.Ala425=
XM_005273975.2:c.1158C>T XP_005274032.1:p.Ala386=
XM_011544994.1:c.1053C>T XP_011543296.1:p.Ala351=
XR_949903.1:n.2388C>T
XM_005273975.3:c.1158C>T XP_005274032.1:p.Ala386=
XM_017017669.2:c.1275C>T XP_016873158.1:p.Ala425=
XM_017017670.2:c.1275C>T XP_016873159.1:p.Ala425=
XR_949903.3:n.2384C>T
NM_002180.3:c.2286C>T MANE Select NP_002171.2:p.Ala762=