Canonical Allele Identifier: CA381653035

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936688-C-G
• MyVariant Identifiers: chr11:g.68704156C>G (hg19) ; chr11:g.68936688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936688C>G , CM000673.2:g.68936688C>G	GRCh38
NC_000011.9:g.68704156C>G , CM000673.1:g.68704156C>G	GRCh37
NC_000011.8:g.68460732C>G	NCBI36
NG_007976.1:g.37838C>G , LRG_250:g.37838C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2208C>G MANE Select	ENSP00000255078.4:p.Phe736Leu
ENST00000674675.1:c.452C>G
ENST00000674878.1:c.452C>G
ENST00000674955.1:c.*925C>G	ENSP00000502463.1:n.*925C>G
ENST00000675118.1:c.1696C>G
ENST00000675389.1:n.483C>G
ENST00000675615.1:c.2208C>G	ENSP00000502413.1:p.Phe736Leu
ENST00000675648.1:n.1583C>G
ENST00000675916.1:c.452C>G
ENST00000676173.1:n.2953C>G
ENST00000676182.1:c.639C>G
ENST00000676228.1:c.*1531C>G	ENSP00000502375.1:n.*1531C>G
ENST00000255078.7:c.2208C>G	ENSP00000255078.3:p.Phe736Leu
ENST00000539064.5:n.1967C>G
ENST00000543739.5:n.1201C>G
NM_002180.2:c.2208C>G , LRG_250t1:c.2208C>G	NP_002171.2:p.Phe736Leu
XM_005273974.2:c.1197C>G	XP_005274031.1:p.Phe399Leu
XM_005273975.2:c.1080C>G	XP_005274032.1:p.Phe360Leu
XM_011544994.1:c.975C>G	XP_011543296.1:p.Phe325Leu
XR_949903.1:n.2310C>G
XM_005273975.3:c.1080C>G	XP_005274032.1:p.Phe360Leu
XM_017017669.2:c.1197C>G	XP_016873158.1:p.Phe399Leu
XM_017017670.2:c.1197C>G	XP_016873159.1:p.Phe399Leu
XR_949903.3:n.2306C>G
NM_002180.3:c.2208C>G MANE Select	NP_002171.2:p.Phe736Leu