Canonical Allele Identifier: CA381644732

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 993502
• ClinVar RCV Id: RCV001812327
• dbSNP Id: rs1470463698
• gnomAD v2: 11-68685211-A-G
• gnomAD v4: 11-68917743-A-G
• MyVariant Identifiers: chr11:g.68685211A>G (hg19) ; chr11:g.68917743A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917743A>G , CM000673.2:g.68917743A>G	GRCh38
NC_000011.9:g.68685211A>G , CM000673.1:g.68685211A>G	GRCh37
NC_000011.8:g.68441787A>G	NCBI36
NG_007976.1:g.18893A>G , LRG_250:g.18893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.920A>G MANE Select	ENSP00000255078.4:p.Asn307Ser
ENST00000539224.2:c.1049A>G
ENST00000674745.1:c.8A>G	ENSP00000502738.1:p.Asn3Ser
ENST00000674775.1:n.8A>G
ENST00000674955.1:c.920A>G	ENSP00000502463.1:p.Asn307Ser
ENST00000675118.1:c.408A>G
ENST00000675119.1:c.347A>G	ENSP00000501861.1:n.347A>G
ENST00000675305.1:c.240A>G	ENSP00000502365.1:n.240A>G
ENST00000675464.1:c.203A>G	ENSP00000502650.1:p.Asn68Ser
ENST00000675493.1:n.8A>G
ENST00000675615.1:c.920A>G	ENSP00000502413.1:p.Asn307Ser
ENST00000675648.1:n.295A>G
ENST00000675683.1:c.307A>G
ENST00000675684.1:c.8A>G	ENSP00000502192.1:p.Asn3Ser
ENST00000676173.1:n.964A>G
ENST00000676228.1:c.*243A>G	ENSP00000502375.1:n.*243A>G
ENST00000255078.7:c.920A>G	ENSP00000255078.3:p.Asn307Ser
NM_002180.2:c.920A>G , LRG_250t1:c.920A>G	NP_002171.2:p.Asn307Ser
XM_005273974.2:c.-92A>G	XP_005274031.1:n.-92A>G
XM_005273976.1:c.920A>G	XP_005274033.1:p.Asn307Ser
XR_247198.1:n.1022A>G
XR_949903.1:n.1022A>G
XM_005273976.2:c.920A>G	XP_005274033.1:p.Asn307Ser
XM_017017669.2:c.-92A>G	XP_016873158.1:n.-92A>G
XM_017017670.2:c.-92A>G	XP_016873159.1:n.-92A>G
XM_017017671.2:c.920A>G	XP_016873160.1:p.Asn307Ser
XR_949903.3:n.1018A>G
NM_002180.3:c.920A>G MANE Select	NP_002171.2:p.Asn307Ser