Canonical Allele Identifier: CA381653484

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936870-C-T
• MyVariant Identifiers: chr11:g.68704338C>T (hg19) ; chr11:g.68936870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936870C>T , CM000673.2:g.68936870C>T	GRCh38
NC_000011.9:g.68704338C>T , CM000673.1:g.68704338C>T	GRCh37
NC_000011.8:g.68460914C>T	NCBI36
NG_007976.1:g.38020C>T , LRG_250:g.38020C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2390C>T MANE Select	ENSP00000255078.4:p.Ala797Val
ENST00000674675.1:c.587+47C>T
ENST00000674878.1:c.548-53C>T
ENST00000675118.1:c.1878C>T
ENST00000675389.1:n.665C>T
ENST00000675615.1:c.2390C>T	ENSP00000502413.1:p.Ala797Val
ENST00000675648.1:n.1765C>T
ENST00000675916.1:c.634C>T
ENST00000676173.1:n.3135C>T
ENST00000676182.1:c.821C>T
ENST00000676228.1:c.*1713C>T	ENSP00000502375.1:n.*1713C>T
ENST00000255078.7:c.2390C>T	ENSP00000255078.3:p.Ala797Val
ENST00000539064.5:n.2149C>T
ENST00000543739.5:n.1383C>T
NM_002180.2:c.2390C>T , LRG_250t1:c.2390C>T	NP_002171.2:p.Ala797Val
XM_005273974.2:c.1379C>T	XP_005274031.1:p.Ala460Val
XM_005273975.2:c.1262C>T	XP_005274032.1:p.Ala421Val
XM_011544994.1:c.1157C>T	XP_011543296.1:p.Ala386Val
XR_949903.1:n.2492C>T
XM_005273975.3:c.1262C>T	XP_005274032.1:p.Ala421Val
XM_017017669.2:c.1379C>T	XP_016873158.1:p.Ala460Val
XM_017017670.2:c.1379C>T	XP_016873159.1:p.Ala460Val
XR_949903.3:n.2488C>T
NM_002180.3:c.2390C>T MANE Select	NP_002171.2:p.Ala797Val