Canonical Allele Identifier: CA381652804

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859538313
• gnomAD v4: 11-68936578-A-T
• MyVariant Identifiers: chr11:g.68704046A>T (hg19) ; chr11:g.68936578A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936578A>T , CM000673.2:g.68936578A>T	GRCh38
NC_000011.9:g.68704046A>T , CM000673.1:g.68704046A>T	GRCh37
NC_000011.8:g.68460622A>T	NCBI36
NG_007976.1:g.37728A>T , LRG_250:g.37728A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2098A>T MANE Select	ENSP00000255078.4:p.Lys700Ter
ENST00000674675.1:c.342A>T
ENST00000674878.1:c.342A>T
ENST00000674955.1:c.*815A>T	ENSP00000502463.1:n.*815A>T
ENST00000675118.1:c.1586A>T
ENST00000675389.1:n.373A>T
ENST00000675615.1:c.2098A>T	ENSP00000502413.1:p.Lys700Ter
ENST00000675648.1:n.1473A>T
ENST00000675916.1:c.342A>T
ENST00000676173.1:n.2843A>T
ENST00000676182.1:c.529A>T
ENST00000676228.1:c.*1421A>T	ENSP00000502375.1:n.*1421A>T
ENST00000255078.7:c.2098A>T	ENSP00000255078.3:p.Lys700Ter
ENST00000539064.5:n.1857A>T
ENST00000543739.5:n.1091A>T
NM_002180.2:c.2098A>T , LRG_250t1:c.2098A>T	NP_002171.2:p.Lys700Ter
XM_005273974.2:c.1087A>T	XP_005274031.1:p.Lys363Ter
XM_005273975.2:c.970A>T	XP_005274032.1:p.Lys324Ter
XM_011544994.1:c.865A>T	XP_011543296.1:p.Lys289Ter
XR_949903.1:n.2200A>T
XM_005273975.3:c.970A>T	XP_005274032.1:p.Lys324Ter
XM_017017669.2:c.1087A>T	XP_016873158.1:p.Lys363Ter
XM_017017670.2:c.1087A>T	XP_016873159.1:p.Lys363Ter
XR_949903.3:n.2196A>T
NM_002180.3:c.2098A>T MANE Select	NP_002171.2:p.Lys700Ter