Canonical Allele Identifier: CA381651275

Gene: IGHMBP2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68935396T>C , CM000673.2:g.68935396T>C	GRCh38
NC_000011.9:g.68702864T>C , CM000673.1:g.68702864T>C	GRCh37
NC_000011.8:g.68459440T>C	NCBI36
NG_007976.1:g.36546T>C , LRG_250:g.36546T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1730T>C MANE Select	ENSP00000255078.4:p.Leu577Pro
ENST00000674955.1:c.*447T>C	ENSP00000502463.1:n.*447T>C
ENST00000675118.1:c.1218T>C
ENST00000675615.1:c.1730T>C	ENSP00000502413.1:p.Leu577Pro
ENST00000675648.1:n.1105T>C
ENST00000676173.1:n.2475T>C
ENST00000676182.1:c.161T>C
ENST00000676228.1:c.*1053T>C	ENSP00000502375.1:n.*1053T>C
ENST00000255078.7:c.1730T>C	ENSP00000255078.3:p.Leu577Pro
ENST00000539064.5:n.1489T>C
ENST00000541229.5:n.425T>C
ENST00000543739.5:n.749+838T>C
ENST00000545475.1:n.326T>C
NM_002180.2:c.1730T>C , LRG_250t1:c.1730T>C	NP_002171.2:p.Leu577Pro
XM_005273974.2:c.719T>C	XP_005274031.1:p.Leu240Pro
XM_005273975.2:c.602T>C	XP_005274032.1:p.Leu201Pro
XM_011544994.1:c.497T>C	XP_011543296.1:p.Leu166Pro
XR_949903.1:n.1832T>C
XM_005273975.3:c.602T>C	XP_005274032.1:p.Leu201Pro
XM_017017669.2:c.719T>C	XP_016873158.1:p.Leu240Pro
XM_017017670.2:c.719T>C	XP_016873159.1:p.Leu240Pro
XM_017017671.2:c.*57T>C	XP_016873160.1:n.*57T>C
XR_949903.3:n.1828T>C
NM_002180.3:c.1730T>C MANE Select	NP_002171.2:p.Leu577Pro