Canonical Allele Identifier: CA381652056

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703884A>C (hg19) ; chr11:g.68936416A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936416A>C , CM000673.2:g.68936416A>C	GRCh38
NC_000011.9:g.68703884A>C , CM000673.1:g.68703884A>C	GRCh37
NC_000011.8:g.68460460A>C	NCBI36
NG_007976.1:g.37566A>C , LRG_250:g.37566A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1936A>C MANE Select	ENSP00000255078.4:p.Ile646Leu
ENST00000674675.1:c.180A>C
ENST00000674878.1:c.180A>C
ENST00000674955.1:c.*653A>C	ENSP00000502463.1:n.*653A>C
ENST00000675118.1:c.1424A>C
ENST00000675389.1:n.211A>C
ENST00000675615.1:c.1936A>C	ENSP00000502413.1:p.Ile646Leu
ENST00000675648.1:n.1311A>C
ENST00000675916.1:c.180A>C
ENST00000676173.1:n.2681A>C
ENST00000676182.1:c.367A>C
ENST00000676228.1:c.*1259A>C	ENSP00000502375.1:n.*1259A>C
ENST00000255078.7:c.1936A>C	ENSP00000255078.3:p.Ile646Leu
ENST00000539064.5:n.1695A>C
ENST00000543739.5:n.929A>C
ENST00000545475.1:n.532A>C
NM_002180.2:c.1936A>C , LRG_250t1:c.1936A>C	NP_002171.2:p.Ile646Leu
XM_005273974.2:c.925A>C	XP_005274031.1:p.Ile309Leu
XM_005273975.2:c.808A>C	XP_005274032.1:p.Ile270Leu
XM_011544994.1:c.703A>C	XP_011543296.1:p.Ile235Leu
XR_949903.1:n.2038A>C
XM_005273975.3:c.808A>C	XP_005274032.1:p.Ile270Leu
XM_017017669.2:c.925A>C	XP_016873158.1:p.Ile309Leu
XM_017017670.2:c.925A>C	XP_016873159.1:p.Ile309Leu
XR_949903.3:n.2034A>C
NM_002180.3:c.1936A>C MANE Select	NP_002171.2:p.Ile646Leu