Canonical Allele Identifier: CA381643780
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68911494T>A , CM000673.2:g.68911494T>A GRCh38
NC_000011.9:g.68678962T>A , CM000673.1:g.68678962T>A GRCh37
NC_000011.8:g.68435538T>A NCBI36
NG_007976.1:g.12644T>A , LRG_250:g.12644T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.602T>A MANE Select ENSP00000255078.4:p.Leu201Ter
ENST00000539224.2:c.565T>A
ENST00000674583.1:c.565T>A
ENST00000674955.1:c.602T>A ENSP00000502463.1:p.Leu201Ter
ENST00000675142.1:n.565T>A
ENST00000675615.1:c.602T>A ENSP00000502413.1:p.Leu201Ter
ENST00000675674.1:n.565T>A
ENST00000675683.1:c.98+2863T>A
ENST00000675873.1:c.565T>A
ENST00000676173.1:n.646T>A
ENST00000676228.1:c.504T>A ENSP00000502375.1:p.Phe168Leu
ENST00000255078.7:c.602T>A ENSP00000255078.3:p.Leu201Ter
ENST00000539224.1:c.504T>A ENSP00000440465.1:p.Phe168Leu
NM_002180.2:c.602T>A , LRG_250t1:c.602T>A NP_002171.2:p.Leu201Ter
XM_005273974.2:c.-410T>A XP_005274031.1:n.-410T>A
XM_005273976.1:c.602T>A XP_005274033.1:p.Leu201Ter
XR_247198.1:n.704T>A
XR_949903.1:n.704T>A
XM_005273976.2:c.602T>A XP_005274033.1:p.Leu201Ter
XM_017017669.2:c.-410T>A XP_016873158.1:n.-410T>A
XM_017017671.2:c.602T>A XP_016873160.1:p.Leu201Ter
XR_949903.3:n.700T>A
NM_002180.3:c.602T>A MANE Select NP_002171.2:p.Leu201Ter