Canonical Allele Identifier: CA381652028

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703876T>C (hg19) ; chr11:g.68936408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936408T>C , CM000673.2:g.68936408T>C	GRCh38
NC_000011.9:g.68703876T>C , CM000673.1:g.68703876T>C	GRCh37
NC_000011.8:g.68460452T>C	NCBI36
NG_007976.1:g.37558T>C , LRG_250:g.37558T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1928T>C MANE Select	ENSP00000255078.4:p.Leu643Pro
ENST00000674675.1:c.172T>C
ENST00000674878.1:c.172T>C
ENST00000674955.1:c.*645T>C	ENSP00000502463.1:n.*645T>C
ENST00000675118.1:c.1416T>C
ENST00000675389.1:n.203T>C
ENST00000675615.1:c.1928T>C	ENSP00000502413.1:p.Leu643Pro
ENST00000675648.1:n.1303T>C
ENST00000675916.1:c.172T>C
ENST00000676173.1:n.2673T>C
ENST00000676182.1:c.359T>C
ENST00000676228.1:c.*1251T>C	ENSP00000502375.1:n.*1251T>C
ENST00000255078.7:c.1928T>C	ENSP00000255078.3:p.Leu643Pro
ENST00000539064.5:n.1687T>C
ENST00000543739.5:n.921T>C
ENST00000545475.1:n.524T>C
NM_002180.2:c.1928T>C , LRG_250t1:c.1928T>C	NP_002171.2:p.Leu643Pro
XM_005273974.2:c.917T>C	XP_005274031.1:p.Leu306Pro
XM_005273975.2:c.800T>C	XP_005274032.1:p.Leu267Pro
XM_011544994.1:c.695T>C	XP_011543296.1:p.Leu232Pro
XR_949903.1:n.2030T>C
XM_005273975.3:c.800T>C	XP_005274032.1:p.Leu267Pro
XM_017017669.2:c.917T>C	XP_016873158.1:p.Leu306Pro
XM_017017670.2:c.917T>C	XP_016873159.1:p.Leu306Pro
XR_949903.3:n.2026T>C
NM_002180.3:c.1928T>C MANE Select	NP_002171.2:p.Leu643Pro