Canonical Allele Identifier: CA381653045

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704160G>T (hg19) ; chr11:g.68936692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936692G>T , CM000673.2:g.68936692G>T	GRCh38
NC_000011.9:g.68704160G>T , CM000673.1:g.68704160G>T	GRCh37
NC_000011.8:g.68460736G>T	NCBI36
NG_007976.1:g.37842G>T , LRG_250:g.37842G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2212G>T MANE Select	ENSP00000255078.4:p.Ala738Ser
ENST00000674675.1:c.456G>T
ENST00000674878.1:c.456G>T
ENST00000674955.1:c.*929G>T	ENSP00000502463.1:n.*929G>T
ENST00000675118.1:c.1700G>T
ENST00000675389.1:n.487G>T
ENST00000675615.1:c.2212G>T	ENSP00000502413.1:p.Ala738Ser
ENST00000675648.1:n.1587G>T
ENST00000675916.1:c.456G>T
ENST00000676173.1:n.2957G>T
ENST00000676182.1:c.643G>T
ENST00000676228.1:c.*1535G>T	ENSP00000502375.1:n.*1535G>T
ENST00000255078.7:c.2212G>T	ENSP00000255078.3:p.Ala738Ser
ENST00000539064.5:n.1971G>T
ENST00000543739.5:n.1205G>T
NM_002180.2:c.2212G>T , LRG_250t1:c.2212G>T	NP_002171.2:p.Ala738Ser
XM_005273974.2:c.1201G>T	XP_005274031.1:p.Ala401Ser
XM_005273975.2:c.1084G>T	XP_005274032.1:p.Ala362Ser
XM_011544994.1:c.979G>T	XP_011543296.1:p.Ala327Ser
XR_949903.1:n.2314G>T
XM_005273975.3:c.1084G>T	XP_005274032.1:p.Ala362Ser
XM_017017669.2:c.1201G>T	XP_016873158.1:p.Ala401Ser
XM_017017670.2:c.1201G>T	XP_016873159.1:p.Ala401Ser
XR_949903.3:n.2310G>T
NM_002180.3:c.2212G>T MANE Select	NP_002171.2:p.Ala738Ser