Canonical Allele Identifier: CA2614746377

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908644-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908644G>T , CM000673.2:g.68908644G>T	GRCh38
NC_000011.9:g.68676112G>T , CM000673.1:g.68676112G>T	GRCh37
NC_000011.8:g.68432688G>T	NCBI36
NG_007976.1:g.9794G>T , LRG_250:g.9794G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.547+13G>T MANE Select	ENSP00000255078.4:n.547+13G>T
ENST00000539224.2:c.510+13G>T
ENST00000674583.1:c.510+13G>T
ENST00000674955.1:c.547+13G>T	ENSP00000502463.1:n.547+13G>T
ENST00000675142.1:n.510+13G>T
ENST00000675615.1:c.547+13G>T	ENSP00000502413.1:n.547+13G>T
ENST00000675674.1:n.510+13G>T
ENST00000675683.1:c.98+13G>T
ENST00000675873.1:c.510+13G>T
ENST00000676173.1:n.591+13G>T
ENST00000676228.1:c.449+307G>T	ENSP00000502375.1:n.449+307G>T
ENST00000255078.7:c.547+13G>T	ENSP00000255078.3:n.547+13G>T
ENST00000539224.1:c.449+307G>T	ENSP00000440465.1:n.449+307G>T
ENST00000544541.1:c.*287+13G>T	ENSP00000443343.1:n.*287+13G>T
NM_002180.2:c.547+13G>T , LRG_250t1:c.547+13G>T	NP_002171.2:n.547+13G>T
XM_005273974.2:c.-465+13G>T	XP_005274031.1:n.-465+13G>T
XM_005273976.1:c.547+13G>T	XP_005274033.1:n.547+13G>T
XR_247198.1:n.649+13G>T
XR_949903.1:n.649+13G>T
XM_005273976.2:c.547+13G>T	XP_005274033.1:n.547+13G>T
XM_017017669.2:c.-465+307G>T	XP_016873158.1:n.-465+307G>T
XM_017017671.2:c.547+13G>T	XP_016873160.1:n.547+13G>T
XR_949903.3:n.645+13G>T
NM_002180.3:c.547+13G>T MANE Select	NP_002171.2:n.547+13G>T