Canonical Allele Identifier: CA2574904220

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1909688
• ClinVar RCV Id: RCV002600393
• dbSNP Id: rs1858723305
• gnomAD v4: 11-68917717-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917717C>G , CM000673.2:g.68917717C>G	GRCh38
NC_000011.9:g.68685185C>G , CM000673.1:g.68685185C>G	GRCh37
NC_000011.8:g.68441761C>G	NCBI36
NG_007976.1:g.18867C>G , LRG_250:g.18867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.913-19C>G MANE Select	ENSP00000255078.4:n.913-19C>G
ENST00000539224.2:c.1042-19C>G
ENST00000674955.1:c.913-19C>G	ENSP00000502463.1:n.913-19C>G
ENST00000675118.1:c.401-19C>G
ENST00000675119.1:c.340-19C>G	ENSP00000501861.1:n.340-19C>G
ENST00000675305.1:c.233-19C>G	ENSP00000502365.1:n.233-19C>G
ENST00000675464.1:c.196-19C>G	ENSP00000502650.1:n.196-19C>G
ENST00000675615.1:c.913-19C>G	ENSP00000502413.1:n.913-19C>G
ENST00000675648.1:n.288-19C>G
ENST00000675683.1:c.300-19C>G
ENST00000676173.1:n.957-19C>G
ENST00000676228.1:c.*236-19C>G	ENSP00000502375.1:n.*236-19C>G
ENST00000255078.7:c.913-19C>G	ENSP00000255078.3:n.913-19C>G
NM_002180.2:c.913-19C>G , LRG_250t1:c.913-19C>G	NP_002171.2:n.913-19C>G
XM_005273974.2:c.-99-19C>G	XP_005274031.1:n.-99-19C>G
XM_005273976.1:c.913-19C>G	XP_005274033.1:n.913-19C>G
XR_247198.1:n.1015-19C>G
XR_949903.1:n.1015-19C>G
XM_005273976.2:c.913-19C>G	XP_005274033.1:n.913-19C>G
XM_017017669.2:c.-99-19C>G	XP_016873158.1:n.-99-19C>G
XM_017017670.2:c.-99-19C>G	XP_016873159.1:n.-99-19C>G
XM_017017671.2:c.913-19C>G	XP_016873160.1:n.913-19C>G
XR_949903.3:n.1011-19C>G
NM_002180.3:c.913-19C>G MANE Select	NP_002171.2:n.913-19C>G