Canonical Allele Identifier: CA381649770

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701292A>C (hg19) ; chr11:g.68933824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933824A>C , CM000673.2:g.68933824A>C	GRCh38
NC_000011.9:g.68701292A>C , CM000673.1:g.68701292A>C	GRCh37
NC_000011.8:g.68457868A>C	NCBI36
NG_007976.1:g.34974A>C , LRG_250:g.34974A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1448A>C MANE Select	ENSP00000255078.4:p.Glu483Ala
ENST00000674955.1:c.*165A>C	ENSP00000502463.1:n.*165A>C
ENST00000675118.1:c.936A>C
ENST00000675205.1:n.183+343A>C
ENST00000675615.1:c.1448A>C	ENSP00000502413.1:p.Glu483Ala
ENST00000675648.1:n.823A>C
ENST00000675997.1:n.113-640A>C
ENST00000676173.1:n.2193A>C
ENST00000676228.1:c.*771A>C	ENSP00000502375.1:n.*771A>C
ENST00000255078.7:c.1448A>C	ENSP00000255078.3:p.Glu483Ala
ENST00000537458.5:n.565A>C
ENST00000539064.5:n.1207A>C
ENST00000541229.5:n.143A>C
ENST00000543739.5:n.565A>C
NM_002180.2:c.1448A>C , LRG_250t1:c.1448A>C	NP_002171.2:p.Glu483Ala
XM_005273974.2:c.437A>C	XP_005274031.1:p.Glu146Ala
XM_005273975.2:c.320A>C	XP_005274032.1:p.Glu107Ala
XM_011544994.1:c.215A>C	XP_011543296.1:p.Glu72Ala
XR_949903.1:n.1550A>C
XM_005273975.3:c.320A>C	XP_005274032.1:p.Glu107Ala
XM_017017669.2:c.437A>C	XP_016873158.1:p.Glu146Ala
XM_017017670.2:c.437A>C	XP_016873159.1:p.Glu146Ala
XM_017017671.2:c.1448A>C	XP_016873160.1:p.Glu483Ala
XR_949903.3:n.1546A>C
NM_002180.3:c.1448A>C MANE Select	NP_002171.2:p.Glu483Ala