Canonical Allele Identifier: CA475280707

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704156C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936688C>T , CM000673.2:g.68936688C>T	GRCh38
NC_000011.9:g.68704156C>T , CM000673.1:g.68704156C>T	GRCh37
NC_000011.8:g.68460732C>T	NCBI36
NG_007976.1:g.37838C>T , LRG_250:g.37838C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2208C>T MANE Select	ENSP00000255078.4:p.Phe736=
ENST00000674675.1:c.452C>T
ENST00000674878.1:c.452C>T
ENST00000674955.1:c.*925C>T	ENSP00000502463.1:n.*925C>T
ENST00000675118.1:c.1696C>T
ENST00000675389.1:n.483C>T
ENST00000675615.1:c.2208C>T	ENSP00000502413.1:p.Phe736=
ENST00000675648.1:n.1583C>T
ENST00000675916.1:c.452C>T
ENST00000676173.1:n.2953C>T
ENST00000676182.1:c.639C>T
ENST00000676228.1:c.*1531C>T	ENSP00000502375.1:n.*1531C>T
ENST00000255078.7:c.2208C>T	ENSP00000255078.3:p.Phe736=
ENST00000539064.5:n.1967C>T
ENST00000543739.5:n.1201C>T
NM_002180.2:c.2208C>T , LRG_250t1:c.2208C>T	NP_002171.2:p.Phe736=
XM_005273974.2:c.1197C>T	XP_005274031.1:p.Phe399=
XM_005273975.2:c.1080C>T	XP_005274032.1:p.Phe360=
XM_011544994.1:c.975C>T	XP_011543296.1:p.Phe325=
XR_949903.1:n.2310C>T
XM_005273975.3:c.1080C>T	XP_005274032.1:p.Phe360=
XM_017017669.2:c.1197C>T	XP_016873158.1:p.Phe399=
XM_017017670.2:c.1197C>T	XP_016873159.1:p.Phe399=
XR_949903.3:n.2306C>T
NM_002180.3:c.2208C>T MANE Select	NP_002171.2:p.Phe736=