Canonical Allele Identifier: CA381651547

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703743G>C (hg19) ; chr11:g.68936275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936275G>C , CM000673.2:g.68936275G>C	GRCh38
NC_000011.9:g.68703743G>C , CM000673.1:g.68703743G>C	GRCh37
NC_000011.8:g.68460319G>C	NCBI36
NG_007976.1:g.37425G>C , LRG_250:g.37425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1795G>C MANE Select	ENSP00000255078.4:p.Val599Leu
ENST00000674675.1:c.39G>C
ENST00000674878.1:c.39G>C
ENST00000674955.1:c.*512G>C	ENSP00000502463.1:n.*512G>C
ENST00000675118.1:c.1283G>C
ENST00000675389.1:n.70G>C
ENST00000675615.1:c.1795G>C	ENSP00000502413.1:p.Val599Leu
ENST00000675648.1:n.1170G>C
ENST00000675916.1:c.39G>C
ENST00000676173.1:n.2540G>C
ENST00000676182.1:c.226G>C
ENST00000676228.1:c.*1118G>C	ENSP00000502375.1:n.*1118G>C
ENST00000255078.7:c.1795G>C	ENSP00000255078.3:p.Val599Leu
ENST00000539064.5:n.1554G>C
ENST00000541229.5:n.490G>C
ENST00000543739.5:n.788G>C
ENST00000545475.1:n.391G>C
NM_002180.2:c.1795G>C , LRG_250t1:c.1795G>C	NP_002171.2:p.Val599Leu
XM_005273974.2:c.784G>C	XP_005274031.1:p.Val262Leu
XM_005273975.2:c.667G>C	XP_005274032.1:p.Val223Leu
XM_011544994.1:c.562G>C	XP_011543296.1:p.Val188Leu
XR_949903.1:n.1897G>C
XM_005273975.3:c.667G>C	XP_005274032.1:p.Val223Leu
XM_017017669.2:c.784G>C	XP_016873158.1:p.Val262Leu
XM_017017670.2:c.784G>C	XP_016873159.1:p.Val262Leu
XR_949903.3:n.1893G>C
NM_002180.3:c.1795G>C MANE Select	NP_002171.2:p.Val599Leu