Canonical Allele Identifier: CA381651664

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936315-G-A
• MyVariant Identifiers: chr11:g.68703783G>A (hg19) ; chr11:g.68936315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936315G>A , CM000673.2:g.68936315G>A	GRCh38
NC_000011.9:g.68703783G>A , CM000673.1:g.68703783G>A	GRCh37
NC_000011.8:g.68460359G>A	NCBI36
NG_007976.1:g.37465G>A , LRG_250:g.37465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1835G>A MANE Select	ENSP00000255078.4:p.Cys612Tyr
ENST00000674675.1:c.79G>A
ENST00000674878.1:c.79G>A
ENST00000674955.1:c.*552G>A	ENSP00000502463.1:n.*552G>A
ENST00000675118.1:c.1323G>A
ENST00000675389.1:n.110G>A
ENST00000675615.1:c.1835G>A	ENSP00000502413.1:p.Cys612Tyr
ENST00000675648.1:n.1210G>A
ENST00000675916.1:c.79G>A
ENST00000676173.1:n.2580G>A
ENST00000676182.1:c.266G>A
ENST00000676228.1:c.*1158G>A	ENSP00000502375.1:n.*1158G>A
ENST00000255078.7:c.1835G>A	ENSP00000255078.3:p.Cys612Tyr
ENST00000539064.5:n.1594G>A
ENST00000541229.5:n.530G>A
ENST00000543739.5:n.828G>A
ENST00000545475.1:n.431G>A
NM_002180.2:c.1835G>A , LRG_250t1:c.1835G>A	NP_002171.2:p.Cys612Tyr
XM_005273974.2:c.824G>A	XP_005274031.1:p.Cys275Tyr
XM_005273975.2:c.707G>A	XP_005274032.1:p.Cys236Tyr
XM_011544994.1:c.602G>A	XP_011543296.1:p.Cys201Tyr
XR_949903.1:n.1937G>A
XM_005273975.3:c.707G>A	XP_005274032.1:p.Cys236Tyr
XM_017017669.2:c.824G>A	XP_016873158.1:p.Cys275Tyr
XM_017017670.2:c.824G>A	XP_016873159.1:p.Cys275Tyr
XR_949903.3:n.1933G>A
NM_002180.3:c.1835G>A MANE Select	NP_002171.2:p.Cys612Tyr