Canonical Allele Identifier: CA2574904470

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936206-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936206C>T , CM000673.2:g.68936206C>T	GRCh38
NC_000011.9:g.68703674C>T , CM000673.1:g.68703674C>T	GRCh37
NC_000011.8:g.68460250C>T	NCBI36
NG_007976.1:g.37356C>T , LRG_250:g.37356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1757-31C>T MANE Select	ENSP00000255078.4:n.1757-31C>T
ENST00000674955.1:c.*474-31C>T	ENSP00000502463.1:n.*474-31C>T
ENST00000675118.1:c.1245-31C>T
ENST00000675389.1:n.32-31C>T
ENST00000675615.1:c.1757-31C>T	ENSP00000502413.1:n.1757-31C>T
ENST00000675648.1:n.1132-31C>T
ENST00000676173.1:n.2502-31C>T
ENST00000676182.1:c.188-31C>T
ENST00000676228.1:c.*1080-31C>T	ENSP00000502375.1:n.*1080-31C>T
ENST00000255078.7:c.1757-31C>T	ENSP00000255078.3:n.1757-31C>T
ENST00000539064.5:n.1516-31C>T
ENST00000541229.5:n.452-31C>T
ENST00000543739.5:n.750-31C>T
ENST00000545475.1:n.353-31C>T
NM_002180.2:c.1757-31C>T , LRG_250t1:c.1757-31C>T	NP_002171.2:n.1757-31C>T
XM_005273974.2:c.746-31C>T	XP_005274031.1:n.746-31C>T
XM_005273975.2:c.629-31C>T	XP_005274032.1:n.629-31C>T
XM_011544994.1:c.524-31C>T	XP_011543296.1:n.524-31C>T
XR_949903.1:n.1859-31C>T
XM_005273975.3:c.629-31C>T	XP_005274032.1:n.629-31C>T
XM_017017669.2:c.746-31C>T	XP_016873158.1:n.746-31C>T
XM_017017670.2:c.746-31C>T	XP_016873159.1:n.746-31C>T
XR_949903.3:n.1855-31C>T
NM_002180.3:c.1757-31C>T MANE Select	NP_002171.2:n.1757-31C>T