Canonical Allele Identifier: CA475280883

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2057661
• ClinVar RCV Id: RCV002928184
• dbSNP Id: rs1165471451
• gnomAD v2: 11-68704375-C-T
• gnomAD v3: 11-68936907-C-T
• gnomAD v4: 11-68936907-C-T
• MyVariant Identifiers: chr11:g.68704375C>T (hg19) ; chr11:g.68936907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936907C>T , CM000673.2:g.68936907C>T	GRCh38
NC_000011.9:g.68704375C>T , CM000673.1:g.68704375C>T	GRCh37
NC_000011.8:g.68460951C>T	NCBI36
NG_007976.1:g.38057C>T , LRG_250:g.38057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2427C>T MANE Select	ENSP00000255078.4:p.Pro809=
ENST00000674675.1:c.588-16C>T
ENST00000674878.1:c.548-16C>T
ENST00000675118.1:c.1915C>T
ENST00000675389.1:n.702C>T
ENST00000675615.1:c.2427C>T	ENSP00000502413.1:p.Pro809=
ENST00000675648.1:n.1802C>T
ENST00000675916.1:c.671C>T
ENST00000676173.1:n.3172C>T
ENST00000676182.1:c.858C>T
ENST00000676228.1:c.*1750C>T	ENSP00000502375.1:n.*1750C>T
ENST00000255078.7:c.2427C>T	ENSP00000255078.3:p.Pro809=
ENST00000539064.5:n.2186C>T
ENST00000543739.5:n.1420C>T
NM_002180.2:c.2427C>T , LRG_250t1:c.2427C>T	NP_002171.2:p.Pro809=
XM_005273974.2:c.1416C>T	XP_005274031.1:p.Pro472=
XM_005273975.2:c.1299C>T	XP_005274032.1:p.Pro433=
XM_011544994.1:c.1194C>T	XP_011543296.1:p.Pro398=
XR_949903.1:n.2529C>T
XM_005273975.3:c.1299C>T	XP_005274032.1:p.Pro433=
XM_017017669.2:c.1416C>T	XP_016873158.1:p.Pro472=
XM_017017670.2:c.1416C>T	XP_016873159.1:p.Pro472=
XR_949903.3:n.2525C>T
NM_002180.3:c.2427C>T MANE Select	NP_002171.2:p.Pro809=