Canonical Allele Identifier: CA381643265
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908272G>T , CM000673.2:g.68908272G>T GRCh38
NC_000011.9:g.68675740G>T , CM000673.1:g.68675740G>T GRCh37
NC_000011.8:g.68432316G>T NCBI36
NG_007976.1:g.9422G>T , LRG_250:g.9422G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.384G>T MANE Select ENSP00000255078.4:p.Leu128Phe
ENST00000539224.2:c.347G>T
ENST00000674583.1:c.347G>T
ENST00000674597.1:c.195G>T
ENST00000674955.1:c.384G>T ENSP00000502463.1:p.Leu128Phe
ENST00000675142.1:n.347G>T
ENST00000675469.1:c.260G>T
ENST00000675615.1:c.384G>T ENSP00000502413.1:p.Leu128Phe
ENST00000675674.1:n.347G>T
ENST00000675873.1:c.347G>T
ENST00000676173.1:n.428G>T
ENST00000676228.1:c.384G>T ENSP00000502375.1:p.Leu128Phe
ENST00000255078.7:c.384G>T ENSP00000255078.3:p.Leu128Phe
ENST00000539224.1:c.384G>T ENSP00000440465.1:p.Leu128Phe
ENST00000544541.1:c.*124G>T ENSP00000443343.1:n.*124G>T
NM_002180.2:c.384G>T , LRG_250t1:c.384G>T NP_002171.2:p.Leu128Phe
XM_005273974.2:c.-628G>T XP_005274031.1:n.-628G>T
XM_005273976.1:c.384G>T XP_005274033.1:p.Leu128Phe
XR_247198.1:n.486G>T
XR_949903.1:n.486G>T
XM_005273976.2:c.384G>T XP_005274033.1:p.Leu128Phe
XM_017017669.2:c.-530G>T XP_016873158.1:n.-530G>T
XM_017017671.2:c.384G>T XP_016873160.1:p.Leu128Phe
XR_949903.3:n.482G>T
NM_002180.3:c.384G>T MANE Select NP_002171.2:p.Leu128Phe