Canonical Allele Identifier: CA475186080
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs932085759

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908155G>T , CM000673.2:g.68908155G>T GRCh38
NC_000011.9:g.68675623G>T , CM000673.1:g.68675623G>T GRCh37
NC_000011.8:g.68432199G>T NCBI36
NG_007976.1:g.9305G>T , LRG_250:g.9305G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.267G>T MANE Select ENSP00000255078.4:p.Val89=
ENST00000539224.2:c.230G>T
ENST00000674583.1:c.230G>T
ENST00000674597.1:c.78G>T
ENST00000674955.1:c.267G>T ENSP00000502463.1:p.Val89=
ENST00000675142.1:n.230G>T
ENST00000675469.1:c.143G>T
ENST00000675615.1:c.267G>T ENSP00000502413.1:p.Val89=
ENST00000675674.1:n.230G>T
ENST00000675873.1:c.230G>T
ENST00000676173.1:n.311G>T
ENST00000676228.1:c.267G>T ENSP00000502375.1:p.Val89=
ENST00000255078.7:c.267G>T ENSP00000255078.3:p.Val89=
ENST00000539224.1:c.267G>T ENSP00000440465.1:p.Val89=
ENST00000544541.1:c.*7G>T ENSP00000443343.1:n.*7G>T
ENST00000545146.1:c.*137G>T ENSP00000456366.1:n.*137G>T
NM_002180.2:c.267G>T , LRG_250t1:c.267G>T NP_002171.2:p.Val89=
XM_005273974.2:c.-745G>T XP_005274031.1:n.-745G>T
XM_005273976.1:c.267G>T XP_005274033.1:p.Val89=
XR_247198.1:n.369G>T
XR_949903.1:n.369G>T
XM_005273976.2:c.267G>T XP_005274033.1:p.Val89=
XM_017017669.2:c.-647G>T XP_016873158.1:n.-647G>T
XM_017017671.2:c.267G>T XP_016873160.1:p.Val89=
XR_949903.3:n.365G>T
NM_002180.3:c.267G>T MANE Select NP_002171.2:p.Val89=