Canonical Allele Identifier: CA10584390

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 245630
• ClinVar RCV Id: RCV000236280 ; RCV001332102 ; RCV003765468 ; RCV003330603
• dbSNP Id: rs368775789
• gnomAD v4: 11-68935403-C-A
• MyVariant Identifiers: chr11:g.68702871C>A (hg19) ; chr11:g.68935403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68935403C>A , CM000673.2:g.68935403C>A	GRCh38
NC_000011.9:g.68702871C>A , CM000673.1:g.68702871C>A	GRCh37
NC_000011.8:g.68459447C>A	NCBI36
NG_007976.1:g.36553C>A , LRG_250:g.36553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1737C>A MANE Select	ENSP00000255078.4:p.Phe579Leu
ENST00000674955.1:c.*454C>A	ENSP00000502463.1:n.*454C>A
ENST00000675118.1:c.1225C>A
ENST00000675615.1:c.1737C>A	ENSP00000502413.1:p.Phe579Leu
ENST00000675648.1:n.1112C>A
ENST00000676173.1:n.2482C>A
ENST00000676182.1:c.168C>A
ENST00000676228.1:c.*1060C>A	ENSP00000502375.1:n.*1060C>A
ENST00000255078.7:c.1737C>A	ENSP00000255078.3:p.Phe579Leu
ENST00000539064.5:n.1496C>A
ENST00000541229.5:n.432C>A
ENST00000543739.5:n.750-834C>A
ENST00000545475.1:n.333C>A
NM_002180.2:c.1737C>A , LRG_250t1:c.1737C>A	NP_002171.2:p.Phe579Leu
XM_005273974.2:c.726C>A	XP_005274031.1:p.Phe242Leu
XM_005273975.2:c.609C>A	XP_005274032.1:p.Phe203Leu
XM_011544994.1:c.504C>A	XP_011543296.1:p.Phe168Leu
XR_949903.1:n.1839C>A
XM_005273975.3:c.609C>A	XP_005274032.1:p.Phe203Leu
XM_017017669.2:c.726C>A	XP_016873158.1:p.Phe242Leu
XM_017017670.2:c.726C>A	XP_016873159.1:p.Phe242Leu
XM_017017671.2:c.*64C>A	XP_016873160.1:n.*64C>A
XR_949903.3:n.1835C>A
NM_002180.3:c.1737C>A MANE Select	NP_002171.2:p.Phe579Leu