Canonical Allele Identifier: CA381651976
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936398T>A , CM000673.2:g.68936398T>A GRCh38
NC_000011.9:g.68703866T>A , CM000673.1:g.68703866T>A GRCh37
NC_000011.8:g.68460442T>A NCBI36
NG_007976.1:g.37548T>A , LRG_250:g.37548T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1918T>A MANE Select ENSP00000255078.4:p.Phe640Ile
ENST00000674675.1:c.162T>A
ENST00000674878.1:c.162T>A
ENST00000674955.1:c.*635T>A ENSP00000502463.1:n.*635T>A
ENST00000675118.1:c.1406T>A
ENST00000675389.1:n.193T>A
ENST00000675615.1:c.1918T>A ENSP00000502413.1:p.Phe640Ile
ENST00000675648.1:n.1293T>A
ENST00000675916.1:c.162T>A
ENST00000676173.1:n.2663T>A
ENST00000676182.1:c.349T>A
ENST00000676228.1:c.*1241T>A ENSP00000502375.1:n.*1241T>A
ENST00000255078.7:c.1918T>A ENSP00000255078.3:p.Phe640Ile
ENST00000539064.5:n.1677T>A
ENST00000543739.5:n.911T>A
ENST00000545475.1:n.514T>A
NM_002180.2:c.1918T>A , LRG_250t1:c.1918T>A NP_002171.2:p.Phe640Ile
XM_005273974.2:c.907T>A XP_005274031.1:p.Phe303Ile
XM_005273975.2:c.790T>A XP_005274032.1:p.Phe264Ile
XM_011544994.1:c.685T>A XP_011543296.1:p.Phe229Ile
XR_949903.1:n.2020T>A
XM_005273975.3:c.790T>A XP_005274032.1:p.Phe264Ile
XM_017017669.2:c.907T>A XP_016873158.1:p.Phe303Ile
XM_017017670.2:c.907T>A XP_016873159.1:p.Phe303Ile
XR_949903.3:n.2016T>A
NM_002180.3:c.1918T>A MANE Select NP_002171.2:p.Phe640Ile