Canonical Allele Identifier: CA475187100

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1111537
• ClinVar RCV Id: RCV001438178
• dbSNP Id: rs1272309665
• gnomAD v4: 11-68908287-C-G
• MyVariant Identifiers: chr11:g.68675755C>G (hg19) ; chr11:g.68908287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908287C>G , CM000673.2:g.68908287C>G	GRCh38
NC_000011.9:g.68675755C>G , CM000673.1:g.68675755C>G	GRCh37
NC_000011.8:g.68432331C>G	NCBI36
NG_007976.1:g.9437C>G , LRG_250:g.9437C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.399C>G MANE Select	ENSP00000255078.4:p.Ser133=
ENST00000539224.2:c.362C>G
ENST00000674583.1:c.362C>G
ENST00000674597.1:c.210C>G
ENST00000674955.1:c.399C>G	ENSP00000502463.1:p.Ser133=
ENST00000675142.1:n.362C>G
ENST00000675469.1:c.275C>G
ENST00000675615.1:c.399C>G	ENSP00000502413.1:p.Ser133=
ENST00000675674.1:n.362C>G
ENST00000675873.1:c.362C>G
ENST00000676173.1:n.443C>G
ENST00000676228.1:c.399C>G	ENSP00000502375.1:p.Ser133=
ENST00000255078.7:c.399C>G	ENSP00000255078.3:p.Ser133=
ENST00000539224.1:c.399C>G	ENSP00000440465.1:p.Ser133=
ENST00000544541.1:c.*139C>G	ENSP00000443343.1:n.*139C>G
NM_002180.2:c.399C>G , LRG_250t1:c.399C>G	NP_002171.2:p.Ser133=
XM_005273974.2:c.-613C>G	XP_005274031.1:n.-613C>G
XM_005273976.1:c.399C>G	XP_005274033.1:p.Ser133=
XR_247198.1:n.501C>G
XR_949903.1:n.501C>G
XM_005273976.2:c.399C>G	XP_005274033.1:p.Ser133=
XM_017017669.2:c.-515C>G	XP_016873158.1:n.-515C>G
XM_017017671.2:c.399C>G	XP_016873160.1:p.Ser133=
XR_949903.3:n.497C>G
NM_002180.3:c.399C>G MANE Select	NP_002171.2:p.Ser133=