Canonical Allele Identifier: CA381653817

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1474119599
• gnomAD v2: 11-68704460-C-G
• gnomAD v4: 11-68936992-C-G
• MyVariant Identifiers: chr11:g.68704460C>G (hg19) ; chr11:g.68936992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936992C>G , CM000673.2:g.68936992C>G	GRCh38
NC_000011.9:g.68704460C>G , CM000673.1:g.68704460C>G	GRCh37
NC_000011.8:g.68461036C>G	NCBI36
NG_007976.1:g.38142C>G , LRG_250:g.38142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2512C>G MANE Select	ENSP00000255078.4:p.Leu838Val
ENST00000674675.1:c.657C>G
ENST00000674878.1:c.617C>G
ENST00000675118.1:c.2000C>G
ENST00000675389.1:n.787C>G
ENST00000675615.1:c.2512C>G	ENSP00000502413.1:p.Leu838Val
ENST00000675648.1:n.1887C>G
ENST00000675916.1:c.756C>G
ENST00000676173.1:n.3257C>G
ENST00000676182.1:c.943C>G
ENST00000676228.1:c.*1835C>G	ENSP00000502375.1:n.*1835C>G
ENST00000255078.7:c.2512C>G	ENSP00000255078.3:p.Leu838Val
ENST00000539064.5:n.2271C>G
ENST00000543739.5:n.1505C>G
NM_002180.2:c.2512C>G , LRG_250t1:c.2512C>G	NP_002171.2:p.Leu838Val
XM_005273974.2:c.1501C>G	XP_005274031.1:p.Leu501Val
XM_005273975.2:c.1384C>G	XP_005274032.1:p.Leu462Val
XM_011544994.1:c.1279C>G	XP_011543296.1:p.Leu427Val
XR_949903.1:n.2614C>G
XM_005273975.3:c.1384C>G	XP_005274032.1:p.Leu462Val
XM_017017669.2:c.1501C>G	XP_016873158.1:p.Leu501Val
XM_017017670.2:c.1501C>G	XP_016873159.1:p.Leu501Val
XR_949903.3:n.2610C>G
NM_002180.3:c.2512C>G MANE Select	NP_002171.2:p.Leu838Val