Canonical Allele Identifier: CA10639939

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 305831
• ClinVar RCV Id: RCV000298618 ; RCV002429254
• dbSNP Id: rs139237340
• MyVariant Identifiers: chr11:g.68673672C>A (hg19) ; chr11:g.68906204C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68906204C>A , CM000673.2:g.68906204C>A	GRCh38
NC_000011.9:g.68673672C>A , CM000673.1:g.68673672C>A	GRCh37
NC_000011.8:g.68430248C>A	NCBI36
NG_007976.1:g.7354C>A , LRG_250:g.7354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.222C>A MANE Select	ENSP00000255078.4:p.Ser74=
ENST00000539224.2:c.185C>A
ENST00000674583.1:c.185C>A
ENST00000674597.1:c.67+69C>A
ENST00000674729.1:n.165C>A
ENST00000674955.1:c.222C>A	ENSP00000502463.1:p.Ser74=
ENST00000675142.1:n.185C>A
ENST00000675469.1:c.132+4C>A
ENST00000675615.1:c.222C>A	ENSP00000502413.1:p.Ser74=
ENST00000675674.1:n.185C>A
ENST00000675800.1:n.167C>A
ENST00000675873.1:c.185C>A
ENST00000676173.1:n.262C>A
ENST00000676228.1:c.222C>A	ENSP00000502375.1:p.Ser74=
ENST00000255078.7:c.222C>A	ENSP00000255078.3:p.Ser74=
ENST00000539224.1:c.222C>A	ENSP00000440465.1:p.Ser74=
ENST00000544541.1:c.87-1941C>A	ENSP00000443343.1:n.87-1941C>A
ENST00000545146.1:c.222C>A	ENSP00000456366.1:p.Ser74=
NM_002180.2:c.222C>A , LRG_250t1:c.222C>A	NP_002171.2:p.Ser74=
XM_005273974.2:c.-794C>A	XP_005274031.1:n.-794C>A
XM_005273976.1:c.222C>A	XP_005274033.1:p.Ser74=
XR_247198.1:n.324C>A
XR_949903.1:n.324C>A
XM_005273976.2:c.222C>A	XP_005274033.1:p.Ser74=
XM_017017669.2:c.-692C>A	XP_016873158.1:n.-692C>A
XM_017017671.2:c.222C>A	XP_016873160.1:p.Ser74=
XR_949903.3:n.320C>A
NM_002180.3:c.222C>A MANE Select	NP_002171.2:p.Ser74=