Canonical Allele Identifier: CA381651490

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703716T>C (hg19) ; chr11:g.68936248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936248T>C , CM000673.2:g.68936248T>C	GRCh38
NC_000011.9:g.68703716T>C , CM000673.1:g.68703716T>C	GRCh37
NC_000011.8:g.68460292T>C	NCBI36
NG_007976.1:g.37398T>C , LRG_250:g.37398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1768T>C MANE Select	ENSP00000255078.4:p.Phe590Leu
ENST00000674675.1:c.12T>C
ENST00000674878.1:c.12T>C
ENST00000674955.1:c.*485T>C	ENSP00000502463.1:n.*485T>C
ENST00000675118.1:c.1256T>C
ENST00000675389.1:n.43T>C
ENST00000675615.1:c.1768T>C	ENSP00000502413.1:p.Phe590Leu
ENST00000675648.1:n.1143T>C
ENST00000675916.1:c.12T>C
ENST00000676173.1:n.2513T>C
ENST00000676182.1:c.199T>C
ENST00000676228.1:c.*1091T>C	ENSP00000502375.1:n.*1091T>C
ENST00000255078.7:c.1768T>C	ENSP00000255078.3:p.Phe590Leu
ENST00000539064.5:n.1527T>C
ENST00000541229.5:n.463T>C
ENST00000543739.5:n.761T>C
ENST00000545475.1:n.364T>C
NM_002180.2:c.1768T>C , LRG_250t1:c.1768T>C	NP_002171.2:p.Phe590Leu
XM_005273974.2:c.757T>C	XP_005274031.1:p.Phe253Leu
XM_005273975.2:c.640T>C	XP_005274032.1:p.Phe214Leu
XM_011544994.1:c.535T>C	XP_011543296.1:p.Phe179Leu
XR_949903.1:n.1870T>C
XM_005273975.3:c.640T>C	XP_005274032.1:p.Phe214Leu
XM_017017669.2:c.757T>C	XP_016873158.1:p.Phe253Leu
XM_017017670.2:c.757T>C	XP_016873159.1:p.Phe253Leu
XR_949903.3:n.1866T>C
NM_002180.3:c.1768T>C MANE Select	NP_002171.2:p.Phe590Leu