Canonical Allele Identifier: CA223413370

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs933439478
• MyVariant Identifiers: chr11:g.68704068C>T (hg19) ; chr11:g.68936600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936600C>T , CM000673.2:g.68936600C>T	GRCh38
NC_000011.9:g.68704068C>T , CM000673.1:g.68704068C>T	GRCh37
NC_000011.8:g.68460644C>T	NCBI36
NG_007976.1:g.37750C>T , LRG_250:g.37750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2120C>T MANE Select	ENSP00000255078.4:p.Pro707Leu
ENST00000674675.1:c.364C>T
ENST00000674878.1:c.364C>T
ENST00000674955.1:c.*837C>T	ENSP00000502463.1:n.*837C>T
ENST00000675118.1:c.1608C>T
ENST00000675389.1:n.395C>T
ENST00000675615.1:c.2120C>T	ENSP00000502413.1:p.Pro707Leu
ENST00000675648.1:n.1495C>T
ENST00000675916.1:c.364C>T
ENST00000676173.1:n.2865C>T
ENST00000676182.1:c.551C>T
ENST00000676228.1:c.*1443C>T	ENSP00000502375.1:n.*1443C>T
ENST00000255078.7:c.2120C>T	ENSP00000255078.3:p.Pro707Leu
ENST00000539064.5:n.1879C>T
ENST00000543739.5:n.1113C>T
NM_002180.2:c.2120C>T , LRG_250t1:c.2120C>T	NP_002171.2:p.Pro707Leu
XM_005273974.2:c.1109C>T	XP_005274031.1:p.Pro370Leu
XM_005273975.2:c.992C>T	XP_005274032.1:p.Pro331Leu
XM_011544994.1:c.887C>T	XP_011543296.1:p.Pro296Leu
XR_949903.1:n.2222C>T
XM_005273975.3:c.992C>T	XP_005274032.1:p.Pro331Leu
XM_017017669.2:c.1109C>T	XP_016873158.1:p.Pro370Leu
XM_017017670.2:c.1109C>T	XP_016873159.1:p.Pro370Leu
XR_949903.3:n.2218C>T
NM_002180.3:c.2120C>T MANE Select	NP_002171.2:p.Pro707Leu