Canonical Allele Identifier: CA223392487

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1507340
• ClinVar RCV Id: RCV002048052
• dbSNP Id: rs899517052
• gnomAD v2: 11-68682439-G-A
• gnomAD v3: 11-68914971-G-A
• gnomAD v4: 11-68914971-G-A
• MyVariant Identifiers: chr11:g.68682439G>A (hg19) ; chr11:g.68914971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914971G>A , CM000673.2:g.68914971G>A	GRCh38
NC_000011.9:g.68682439G>A , CM000673.1:g.68682439G>A	GRCh37
NC_000011.8:g.68439015G>A	NCBI36
NG_007976.1:g.16121G>A , LRG_250:g.16121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.860G>A MANE Select	ENSP00000255078.4:p.Ser287Asn
ENST00000539224.2:c.989G>A
ENST00000674955.1:c.860G>A	ENSP00000502463.1:p.Ser287Asn
ENST00000675118.1:c.207G>A
ENST00000675119.1:c.149G>A	ENSP00000501861.1:p.Ser50Asn
ENST00000675305.1:c.149G>A	ENSP00000502365.1:p.Ser50Asn
ENST00000675464.1:c.149G>A	ENSP00000502650.1:p.Ser50Asn
ENST00000675615.1:c.860G>A	ENSP00000502413.1:p.Ser287Asn
ENST00000675683.1:c.247G>A
ENST00000676173.1:n.904G>A
ENST00000676228.1:c.*183G>A	ENSP00000502375.1:n.*183G>A
ENST00000676239.1:n.174G>A
ENST00000255078.7:c.860G>A	ENSP00000255078.3:p.Ser287Asn
NM_002180.2:c.860G>A , LRG_250t1:c.860G>A	NP_002171.2:p.Ser287Asn
XM_005273974.2:c.-152G>A	XP_005274031.1:n.-152G>A
XM_005273976.1:c.860G>A	XP_005274033.1:p.Ser287Asn
XR_247198.1:n.962G>A
XR_949903.1:n.962G>A
XM_005273976.2:c.860G>A	XP_005274033.1:p.Ser287Asn
XM_017017669.2:c.-152G>A	XP_016873158.1:n.-152G>A
XM_017017670.2:c.-152G>A	XP_016873159.1:n.-152G>A
XM_017017671.2:c.860G>A	XP_016873160.1:p.Ser287Asn
XR_949903.3:n.958G>A
NM_002180.3:c.860G>A MANE Select	NP_002171.2:p.Ser287Asn