Canonical Allele Identifier: CA381644487

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1380122297
• gnomAD v3: 11-68914961-T-A
• gnomAD v4: 11-68914961-T-A
• MyVariant Identifiers: chr11:g.68682429T>A (hg19) ; chr11:g.68914961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914961T>A , CM000673.2:g.68914961T>A	GRCh38
NC_000011.9:g.68682429T>A , CM000673.1:g.68682429T>A	GRCh37
NC_000011.8:g.68439005T>A	NCBI36
NG_007976.1:g.16111T>A , LRG_250:g.16111T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.850T>A MANE Select	ENSP00000255078.4:p.Leu284Ile
ENST00000539224.2:c.979T>A
ENST00000674955.1:c.850T>A	ENSP00000502463.1:p.Leu284Ile
ENST00000675118.1:c.197T>A
ENST00000675119.1:c.139T>A	ENSP00000501861.1:p.Leu47Ile
ENST00000675305.1:c.139T>A	ENSP00000502365.1:p.Leu47Ile
ENST00000675464.1:c.139T>A	ENSP00000502650.1:p.Leu47Ile
ENST00000675615.1:c.850T>A	ENSP00000502413.1:p.Leu284Ile
ENST00000675683.1:c.237T>A
ENST00000676173.1:n.894T>A
ENST00000676228.1:c.*173T>A	ENSP00000502375.1:n.*173T>A
ENST00000676239.1:n.164T>A
ENST00000255078.7:c.850T>A	ENSP00000255078.3:p.Leu284Ile
NM_002180.2:c.850T>A , LRG_250t1:c.850T>A	NP_002171.2:p.Leu284Ile
XM_005273974.2:c.-162T>A	XP_005274031.1:n.-162T>A
XM_005273976.1:c.850T>A	XP_005274033.1:p.Leu284Ile
XR_247198.1:n.952T>A
XR_949903.1:n.952T>A
XM_005273976.2:c.850T>A	XP_005274033.1:p.Leu284Ile
XM_017017669.2:c.-162T>A	XP_016873158.1:n.-162T>A
XM_017017670.2:c.-162T>A	XP_016873159.1:n.-162T>A
XM_017017671.2:c.850T>A	XP_016873160.1:p.Leu284Ile
XR_949903.3:n.948T>A
NM_002180.3:c.850T>A MANE Select	NP_002171.2:p.Leu284Ile