Canonical Allele Identifier: CA381653535
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs757071286

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936887G>T , CM000673.2:g.68936887G>T GRCh38
NC_000011.9:g.68704355G>T , CM000673.1:g.68704355G>T GRCh37
NC_000011.8:g.68460931G>T NCBI36
NG_007976.1:g.38037G>T , LRG_250:g.38037G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2407G>T MANE Select ENSP00000255078.4:p.Ala803Ser
ENST00000674675.1:c.588-36G>T
ENST00000674878.1:c.548-36G>T
ENST00000675118.1:c.1895G>T
ENST00000675389.1:n.682G>T
ENST00000675615.1:c.2407G>T ENSP00000502413.1:p.Ala803Ser
ENST00000675648.1:n.1782G>T
ENST00000675916.1:c.651G>T
ENST00000676173.1:n.3152G>T
ENST00000676182.1:c.838G>T
ENST00000676228.1:c.*1730G>T ENSP00000502375.1:n.*1730G>T
ENST00000255078.7:c.2407G>T ENSP00000255078.3:p.Ala803Ser
ENST00000539064.5:n.2166G>T
ENST00000543739.5:n.1400G>T
NM_002180.2:c.2407G>T , LRG_250t1:c.2407G>T NP_002171.2:p.Ala803Ser
XM_005273974.2:c.1396G>T XP_005274031.1:p.Ala466Ser
XM_005273975.2:c.1279G>T XP_005274032.1:p.Ala427Ser
XM_011544994.1:c.1174G>T XP_011543296.1:p.Ala392Ser
XR_949903.1:n.2509G>T
XM_005273975.3:c.1279G>T XP_005274032.1:p.Ala427Ser
XM_017017669.2:c.1396G>T XP_016873158.1:p.Ala466Ser
XM_017017670.2:c.1396G>T XP_016873159.1:p.Ala466Ser
XR_949903.3:n.2505G>T
NM_002180.3:c.2407G>T MANE Select NP_002171.2:p.Ala803Ser