Canonical Allele Identifier: CA2614747141

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68929159-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929159C>T , CM000673.2:g.68929159C>T	GRCh38
NC_000011.9:g.68696627C>T , CM000673.1:g.68696627C>T	GRCh37
NC_000011.8:g.68453203C>T	NCBI36
NG_007976.1:g.30309C>T , LRG_250:g.30309C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1061-24C>T MANE Select	ENSP00000255078.4:n.1061-24C>T
ENST00000674745.1:c.226-24C>T	ENSP00000502738.1:n.226-24C>T
ENST00000674775.1:n.237C>T
ENST00000674955.1:c.1061-24C>T	ENSP00000502463.1:n.1061-24C>T
ENST00000675118.1:c.549-24C>T
ENST00000675305.1:c.381-24C>T	ENSP00000502365.1:n.381-24C>T
ENST00000675493.1:n.222-24C>T
ENST00000675615.1:c.1061-24C>T	ENSP00000502413.1:n.1061-24C>T
ENST00000675648.1:n.436-24C>T
ENST00000675684.1:c.164C>T	ENSP00000502192.1:p.Thr55Ile
ENST00000676173.1:n.1105-24C>T
ENST00000676228.1:c.*384-24C>T	ENSP00000502375.1:n.*384-24C>T
ENST00000255078.7:c.1061-24C>T	ENSP00000255078.3:n.1061-24C>T
ENST00000568742.1:n.171-24C>T
NM_002180.2:c.1061-24C>T , LRG_250t1:c.1061-24C>T	NP_002171.2:n.1061-24C>T
XM_005273974.2:c.50-24C>T	XP_005274031.1:n.50-24C>T
XM_005273976.1:c.1061-24C>T	XP_005274033.1:n.1061-24C>T
XR_247198.1:n.1163-24C>T
XR_949903.1:n.1163-24C>T
XM_005273976.2:c.1061-24C>T	XP_005274033.1:n.1061-24C>T
XM_017017669.2:c.50-24C>T	XP_016873158.1:n.50-24C>T
XM_017017670.2:c.50-24C>T	XP_016873159.1:n.50-24C>T
XM_017017671.2:c.1061-24C>T	XP_016873160.1:n.1061-24C>T
XR_949903.3:n.1159-24C>T
NM_002180.3:c.1061-24C>T MANE Select	NP_002171.2:n.1061-24C>T