Canonical Allele Identifier: CA223409316

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1022053363
• gnomAD v3: 11-68934247-A-T
• gnomAD v4: 11-68934247-A-T
• MyVariant Identifiers: chr11:g.68701715A>T (hg19) ; chr11:g.68934247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934247A>T , CM000673.2:g.68934247A>T	GRCh38
NC_000011.9:g.68701715A>T , CM000673.1:g.68701715A>T	GRCh37
NC_000011.8:g.68458291A>T	NCBI36
NG_007976.1:g.35397A>T , LRG_250:g.35397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1538-217A>T MANE Select	ENSP00000255078.4:n.1538-217A>T
ENST00000674955.1:c.*255-217A>T	ENSP00000502463.1:n.*255-217A>T
ENST00000675118.1:c.1026-217A>T
ENST00000675205.1:n.184-217A>T
ENST00000675615.1:c.1538-217A>T	ENSP00000502413.1:n.1538-217A>T
ENST00000675648.1:n.913-217A>T
ENST00000675997.1:n.113-217A>T
ENST00000676173.1:n.2283-217A>T
ENST00000676228.1:c.*861-217A>T	ENSP00000502375.1:n.*861-217A>T
ENST00000255078.7:c.1538-217A>T	ENSP00000255078.3:n.1538-217A>T
ENST00000539064.5:n.1297-217A>T
ENST00000541229.5:n.233-217A>T
ENST00000543739.5:n.655-217A>T
NM_002180.2:c.1538-217A>T , LRG_250t1:c.1538-217A>T	NP_002171.2:n.1538-217A>T
XM_005273974.2:c.527-217A>T	XP_005274031.1:n.527-217A>T
XM_005273975.2:c.410-217A>T	XP_005274032.1:n.410-217A>T
XM_011544994.1:c.305-217A>T	XP_011543296.1:n.305-217A>T
XR_949903.1:n.1640-217A>T
XM_005273975.3:c.410-217A>T	XP_005274032.1:n.410-217A>T
XM_017017669.2:c.527-217A>T	XP_016873158.1:n.527-217A>T
XM_017017670.2:c.527-217A>T	XP_016873159.1:n.527-217A>T
XM_017017671.2:c.1538-217A>T	XP_016873160.1:n.1538-217A>T
XR_949903.3:n.1636-217A>T
NM_002180.3:c.1538-217A>T MANE Select	NP_002171.2:n.1538-217A>T