Canonical Allele Identifier: CA6153248

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 566764
• ClinVar RCV Id: RCV000686666
• dbSNP Id: rs200897747
• ExAC: 11:68675633 G / A
• gnomAD v2: 11-68675633-G-A
• gnomAD v3: 11-68908165-G-A
• gnomAD v4: 11-68908165-G-A
• MyVariant Identifiers: chr11:g.68675633G>A (hg19) ; chr11:g.68908165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908165G>A , CM000673.2:g.68908165G>A	GRCh38
NC_000011.9:g.68675633G>A , CM000673.1:g.68675633G>A	GRCh37
NC_000011.8:g.68432209G>A	NCBI36
NG_007976.1:g.9315G>A , LRG_250:g.9315G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.277G>A MANE Select	ENSP00000255078.4:p.Asp93Asn
ENST00000539224.2:c.240G>A
ENST00000674583.1:c.240G>A
ENST00000674597.1:c.88G>A
ENST00000674955.1:c.277G>A	ENSP00000502463.1:p.Asp93Asn
ENST00000675142.1:n.240G>A
ENST00000675469.1:c.153G>A
ENST00000675615.1:c.277G>A	ENSP00000502413.1:p.Asp93Asn
ENST00000675674.1:n.240G>A
ENST00000675873.1:c.240G>A
ENST00000676173.1:n.321G>A
ENST00000676228.1:c.277G>A	ENSP00000502375.1:p.Asp93Asn
ENST00000255078.7:c.277G>A	ENSP00000255078.3:p.Asp93Asn
ENST00000539224.1:c.277G>A	ENSP00000440465.1:p.Asp93Asn
ENST00000544541.1:c.*17G>A	ENSP00000443343.1:n.*17G>A
ENST00000545146.1:c.*147G>A	ENSP00000456366.1:n.*147G>A
NM_002180.2:c.277G>A , LRG_250t1:c.277G>A	NP_002171.2:p.Asp93Asn
XM_005273974.2:c.-735G>A	XP_005274031.1:n.-735G>A
XM_005273976.1:c.277G>A	XP_005274033.1:p.Asp93Asn
XR_247198.1:n.379G>A
XR_949903.1:n.379G>A
XM_005273976.2:c.277G>A	XP_005274033.1:p.Asp93Asn
XM_017017669.2:c.-637G>A	XP_016873158.1:n.-637G>A
XM_017017671.2:c.277G>A	XP_016873160.1:p.Asp93Asn
XR_949903.3:n.375G>A
NM_002180.3:c.277G>A MANE Select	NP_002171.2:p.Asp93Asn