Canonical Allele Identifier: CA381652839
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936595A>T , CM000673.2:g.68936595A>T GRCh38
NC_000011.9:g.68704063A>T , CM000673.1:g.68704063A>T GRCh37
NC_000011.8:g.68460639A>T NCBI36
NG_007976.1:g.37745A>T , LRG_250:g.37745A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2115A>T MANE Select ENSP00000255078.4:p.Glu705Asp
ENST00000674675.1:c.359A>T
ENST00000674878.1:c.359A>T
ENST00000674955.1:c.*832A>T ENSP00000502463.1:n.*832A>T
ENST00000675118.1:c.1603A>T
ENST00000675389.1:n.390A>T
ENST00000675615.1:c.2115A>T ENSP00000502413.1:p.Glu705Asp
ENST00000675648.1:n.1490A>T
ENST00000675916.1:c.359A>T
ENST00000676173.1:n.2860A>T
ENST00000676182.1:c.546A>T
ENST00000676228.1:c.*1438A>T ENSP00000502375.1:n.*1438A>T
ENST00000255078.7:c.2115A>T ENSP00000255078.3:p.Glu705Asp
ENST00000539064.5:n.1874A>T
ENST00000543739.5:n.1108A>T
NM_002180.2:c.2115A>T , LRG_250t1:c.2115A>T NP_002171.2:p.Glu705Asp
XM_005273974.2:c.1104A>T XP_005274031.1:p.Glu368Asp
XM_005273975.2:c.987A>T XP_005274032.1:p.Glu329Asp
XM_011544994.1:c.882A>T XP_011543296.1:p.Glu294Asp
XR_949903.1:n.2217A>T
XM_005273975.3:c.987A>T XP_005274032.1:p.Glu329Asp
XM_017017669.2:c.1104A>T XP_016873158.1:p.Glu368Asp
XM_017017670.2:c.1104A>T XP_016873159.1:p.Glu368Asp
XR_949903.3:n.2213A>T
NM_002180.3:c.2115A>T MANE Select NP_002171.2:p.Glu705Asp