Canonical Allele Identifier: CA475193563

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2946089
• ClinVar RCV Id: RCV003806375
• gnomAD v4: 11-68914978-T-C
• MyVariant Identifiers: chr11:g.68682446T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914978T>C , CM000673.2:g.68914978T>C	GRCh38
NC_000011.9:g.68682446T>C , CM000673.1:g.68682446T>C	GRCh37
NC_000011.8:g.68439022T>C	NCBI36
NG_007976.1:g.16128T>C , LRG_250:g.16128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.867T>C MANE Select	ENSP00000255078.4:p.Ser289=
ENST00000539224.2:c.996T>C
ENST00000674955.1:c.867T>C	ENSP00000502463.1:p.Ser289=
ENST00000675118.1:c.214T>C
ENST00000675119.1:c.156T>C	ENSP00000501861.1:p.Ser52=
ENST00000675305.1:c.156T>C	ENSP00000502365.1:p.Ser52=
ENST00000675464.1:c.156T>C	ENSP00000502650.1:p.Ser52=
ENST00000675615.1:c.867T>C	ENSP00000502413.1:p.Ser289=
ENST00000675683.1:c.254T>C
ENST00000676173.1:n.911T>C
ENST00000676228.1:c.*190T>C	ENSP00000502375.1:n.*190T>C
ENST00000676239.1:n.181T>C
ENST00000255078.7:c.867T>C	ENSP00000255078.3:p.Ser289=
NM_002180.2:c.867T>C , LRG_250t1:c.867T>C	NP_002171.2:p.Ser289=
XM_005273974.2:c.-145T>C	XP_005274031.1:n.-145T>C
XM_005273976.1:c.867T>C	XP_005274033.1:p.Ser289=
XR_247198.1:n.969T>C
XR_949903.1:n.969T>C
XM_005273976.2:c.867T>C	XP_005274033.1:p.Ser289=
XM_017017669.2:c.-145T>C	XP_016873158.1:n.-145T>C
XM_017017670.2:c.-145T>C	XP_016873159.1:n.-145T>C
XM_017017671.2:c.867T>C	XP_016873160.1:p.Ser289=
XR_949903.3:n.965T>C
NM_002180.3:c.867T>C MANE Select	NP_002171.2:p.Ser289=