Canonical Allele Identifier: CA2614750087

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934055-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934055C>A , CM000673.2:g.68934055C>A	GRCh38
NC_000011.9:g.68701523C>A , CM000673.1:g.68701523C>A	GRCh37
NC_000011.8:g.68458099C>A	NCBI36
NG_007976.1:g.35205C>A , LRG_250:g.35205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+142C>A MANE Select	ENSP00000255078.4:n.1537+142C>A
ENST00000674955.1:c.*254+142C>A	ENSP00000502463.1:n.*254+142C>A
ENST00000675118.1:c.1025+142C>A
ENST00000675205.1:n.184-409C>A
ENST00000675615.1:c.1537+142C>A	ENSP00000502413.1:n.1537+142C>A
ENST00000675648.1:n.912+142C>A
ENST00000675997.1:n.113-409C>A
ENST00000676173.1:n.2282+142C>A
ENST00000676228.1:c.*860+142C>A	ENSP00000502375.1:n.*860+142C>A
ENST00000255078.7:c.1537+142C>A	ENSP00000255078.3:n.1537+142C>A
ENST00000537458.5:n.796C>A
ENST00000539064.5:n.1296+142C>A
ENST00000541229.5:n.232+142C>A
ENST00000543739.5:n.654+142C>A
NM_002180.2:c.1537+142C>A , LRG_250t1:c.1537+142C>A	NP_002171.2:n.1537+142C>A
XM_005273974.2:c.526+142C>A	XP_005274031.1:n.526+142C>A
XM_005273975.2:c.409+142C>A	XP_005274032.1:n.409+142C>A
XM_011544994.1:c.304+142C>A	XP_011543296.1:n.304+142C>A
XR_949903.1:n.1639+142C>A
XM_005273975.3:c.409+142C>A	XP_005274032.1:n.409+142C>A
XM_017017669.2:c.526+142C>A	XP_016873158.1:n.526+142C>A
XM_017017670.2:c.526+142C>A	XP_016873159.1:n.526+142C>A
XM_017017671.2:c.1537+142C>A	XP_016873160.1:n.1537+142C>A
XR_949903.3:n.1635+142C>A
NM_002180.3:c.1537+142C>A MANE Select	NP_002171.2:n.1537+142C>A