Canonical Allele Identifier: CA10577430

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 234779
• ClinVar RCV Id: RCV000215141
• dbSNP Id: rs876661213
• gnomAD v4: 11-68936909-C-T
• MyVariant Identifiers: chr11:g.68704377C>T (hg19) ; chr11:g.68936909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936909C>T , CM000673.2:g.68936909C>T	GRCh38
NC_000011.9:g.68704377C>T , CM000673.1:g.68704377C>T	GRCh37
NC_000011.8:g.68460953C>T	NCBI36
NG_007976.1:g.38059C>T , LRG_250:g.38059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2429C>T MANE Select	ENSP00000255078.4:p.Pro810Leu
ENST00000674675.1:c.588-14C>T
ENST00000674878.1:c.548-14C>T
ENST00000675118.1:c.1917C>T
ENST00000675389.1:n.704C>T
ENST00000675615.1:c.2429C>T	ENSP00000502413.1:p.Pro810Leu
ENST00000675648.1:n.1804C>T
ENST00000675916.1:c.673C>T
ENST00000676173.1:n.3174C>T
ENST00000676182.1:c.860C>T
ENST00000676228.1:c.*1752C>T	ENSP00000502375.1:n.*1752C>T
ENST00000255078.7:c.2429C>T	ENSP00000255078.3:p.Pro810Leu
ENST00000539064.5:n.2188C>T
ENST00000543739.5:n.1422C>T
NM_002180.2:c.2429C>T , LRG_250t1:c.2429C>T	NP_002171.2:p.Pro810Leu
XM_005273974.2:c.1418C>T	XP_005274031.1:p.Pro473Leu
XM_005273975.2:c.1301C>T	XP_005274032.1:p.Pro434Leu
XM_011544994.1:c.1196C>T	XP_011543296.1:p.Pro399Leu
XR_949903.1:n.2531C>T
XM_005273975.3:c.1301C>T	XP_005274032.1:p.Pro434Leu
XM_017017669.2:c.1418C>T	XP_016873158.1:p.Pro473Leu
XM_017017670.2:c.1418C>T	XP_016873159.1:p.Pro473Leu
XR_949903.3:n.2527C>T
NM_002180.3:c.2429C>T MANE Select	NP_002171.2:p.Pro810Leu