Canonical Allele Identifier: CA381651564

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703749G>C (hg19) ; chr11:g.68936281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936281G>C , CM000673.2:g.68936281G>C	GRCh38
NC_000011.9:g.68703749G>C , CM000673.1:g.68703749G>C	GRCh37
NC_000011.8:g.68460325G>C	NCBI36
NG_007976.1:g.37431G>C , LRG_250:g.37431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1801G>C MANE Select	ENSP00000255078.4:p.Val601Leu
ENST00000674675.1:c.45G>C
ENST00000674878.1:c.45G>C
ENST00000674955.1:c.*518G>C	ENSP00000502463.1:n.*518G>C
ENST00000675118.1:c.1289G>C
ENST00000675389.1:n.76G>C
ENST00000675615.1:c.1801G>C	ENSP00000502413.1:p.Val601Leu
ENST00000675648.1:n.1176G>C
ENST00000675916.1:c.45G>C
ENST00000676173.1:n.2546G>C
ENST00000676182.1:c.232G>C
ENST00000676228.1:c.*1124G>C	ENSP00000502375.1:n.*1124G>C
ENST00000255078.7:c.1801G>C	ENSP00000255078.3:p.Val601Leu
ENST00000539064.5:n.1560G>C
ENST00000541229.5:n.496G>C
ENST00000543739.5:n.794G>C
ENST00000545475.1:n.397G>C
NM_002180.2:c.1801G>C , LRG_250t1:c.1801G>C	NP_002171.2:p.Val601Leu
XM_005273974.2:c.790G>C	XP_005274031.1:p.Val264Leu
XM_005273975.2:c.673G>C	XP_005274032.1:p.Val225Leu
XM_011544994.1:c.568G>C	XP_011543296.1:p.Val190Leu
XR_949903.1:n.1903G>C
XM_005273975.3:c.673G>C	XP_005274032.1:p.Val225Leu
XM_017017669.2:c.790G>C	XP_016873158.1:p.Val264Leu
XM_017017670.2:c.790G>C	XP_016873159.1:p.Val264Leu
XR_949903.3:n.1899G>C
NM_002180.3:c.1801G>C MANE Select	NP_002171.2:p.Val601Leu