Canonical Allele Identifier: CA381652770

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 637479
• ClinVar RCV Id: RCV000789678
• dbSNP Id: rs1594455979
• MyVariant Identifiers: chr11:g.68704031A>T (hg19) ; chr11:g.68936563A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936563A>T , CM000673.2:g.68936563A>T	GRCh38
NC_000011.9:g.68704031A>T , CM000673.1:g.68704031A>T	GRCh37
NC_000011.8:g.68460607A>T	NCBI36
NG_007976.1:g.37713A>T , LRG_250:g.37713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2083A>T MANE Select	ENSP00000255078.4:p.Lys695Ter
ENST00000674675.1:c.327A>T
ENST00000674878.1:c.327A>T
ENST00000674955.1:c.*800A>T	ENSP00000502463.1:n.*800A>T
ENST00000675118.1:c.1571A>T
ENST00000675389.1:n.358A>T
ENST00000675615.1:c.2083A>T	ENSP00000502413.1:p.Lys695Ter
ENST00000675648.1:n.1458A>T
ENST00000675916.1:c.327A>T
ENST00000676173.1:n.2828A>T
ENST00000676182.1:c.514A>T
ENST00000676228.1:c.*1406A>T	ENSP00000502375.1:n.*1406A>T
ENST00000255078.7:c.2083A>T	ENSP00000255078.3:p.Lys695Ter
ENST00000539064.5:n.1842A>T
ENST00000543739.5:n.1076A>T
NM_002180.2:c.2083A>T , LRG_250t1:c.2083A>T	NP_002171.2:p.Lys695Ter
XM_005273974.2:c.1072A>T	XP_005274031.1:p.Lys358Ter
XM_005273975.2:c.955A>T	XP_005274032.1:p.Lys319Ter
XM_011544994.1:c.850A>T	XP_011543296.1:p.Lys284Ter
XR_949903.1:n.2185A>T
XM_005273975.3:c.955A>T	XP_005274032.1:p.Lys319Ter
XM_017017669.2:c.1072A>T	XP_016873158.1:p.Lys358Ter
XM_017017670.2:c.1072A>T	XP_016873159.1:p.Lys358Ter
XR_949903.3:n.2181A>T
NM_002180.3:c.2083A>T MANE Select	NP_002171.2:p.Lys695Ter