Canonical Allele Identifier: CA2740093131

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2932316
• ClinVar RCV Id: RCV003795530

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936224T>C , CM000673.2:g.68936224T>C	GRCh38
NC_000011.9:g.68703692T>C , CM000673.1:g.68703692T>C	GRCh37
NC_000011.8:g.68460268T>C	NCBI36
NG_007976.1:g.37374T>C , LRG_250:g.37374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1757-13T>C MANE Select	ENSP00000255078.4:n.1757-13T>C
ENST00000674955.1:c.*474-13T>C	ENSP00000502463.1:n.*474-13T>C
ENST00000675118.1:c.1245-13T>C
ENST00000675389.1:n.32-13T>C
ENST00000675615.1:c.1757-13T>C	ENSP00000502413.1:n.1757-13T>C
ENST00000675648.1:n.1132-13T>C
ENST00000676173.1:n.2502-13T>C
ENST00000676182.1:c.188-13T>C
ENST00000676228.1:c.*1080-13T>C	ENSP00000502375.1:n.*1080-13T>C
ENST00000255078.7:c.1757-13T>C	ENSP00000255078.3:n.1757-13T>C
ENST00000539064.5:n.1516-13T>C
ENST00000541229.5:n.452-13T>C
ENST00000543739.5:n.750-13T>C
ENST00000545475.1:n.353-13T>C
NM_002180.2:c.1757-13T>C , LRG_250t1:c.1757-13T>C	NP_002171.2:n.1757-13T>C
XM_005273974.2:c.746-13T>C	XP_005274031.1:n.746-13T>C
XM_005273975.2:c.629-13T>C	XP_005274032.1:n.629-13T>C
XM_011544994.1:c.524-13T>C	XP_011543296.1:n.524-13T>C
XR_949903.1:n.1859-13T>C
XM_005273975.3:c.629-13T>C	XP_005274032.1:n.629-13T>C
XM_017017669.2:c.746-13T>C	XP_016873158.1:n.746-13T>C
XM_017017670.2:c.746-13T>C	XP_016873159.1:n.746-13T>C
XR_949903.3:n.1855-13T>C
NM_002180.3:c.1757-13T>C MANE Select	NP_002171.2:n.1757-13T>C