Canonical Allele Identifier: CA381650321

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933901-A-G
• MyVariant Identifiers: chr11:g.68701369A>G (hg19) ; chr11:g.68933901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933901A>G , CM000673.2:g.68933901A>G	GRCh38
NC_000011.9:g.68701369A>G , CM000673.1:g.68701369A>G	GRCh37
NC_000011.8:g.68457945A>G	NCBI36
NG_007976.1:g.35051A>G , LRG_250:g.35051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1525A>G MANE Select	ENSP00000255078.4:p.Lys509Glu
ENST00000674955.1:c.*242A>G	ENSP00000502463.1:n.*242A>G
ENST00000675118.1:c.1013A>G
ENST00000675205.1:n.183+420A>G
ENST00000675615.1:c.1525A>G	ENSP00000502413.1:p.Lys509Glu
ENST00000675648.1:n.900A>G
ENST00000675997.1:n.113-563A>G
ENST00000676173.1:n.2270A>G
ENST00000676228.1:c.*848A>G	ENSP00000502375.1:n.*848A>G
ENST00000255078.7:c.1525A>G	ENSP00000255078.3:p.Lys509Glu
ENST00000537458.5:n.642A>G
ENST00000539064.5:n.1284A>G
ENST00000541229.5:n.220A>G
ENST00000543739.5:n.642A>G
NM_002180.2:c.1525A>G , LRG_250t1:c.1525A>G	NP_002171.2:p.Lys509Glu
XM_005273974.2:c.514A>G	XP_005274031.1:p.Lys172Glu
XM_005273975.2:c.397A>G	XP_005274032.1:p.Lys133Glu
XM_011544994.1:c.292A>G	XP_011543296.1:p.Lys98Glu
XR_949903.1:n.1627A>G
XM_005273975.3:c.397A>G	XP_005274032.1:p.Lys133Glu
XM_017017669.2:c.514A>G	XP_016873158.1:p.Lys172Glu
XM_017017670.2:c.514A>G	XP_016873159.1:p.Lys172Glu
XM_017017671.2:c.1525A>G	XP_016873160.1:p.Lys509Glu
XR_949903.3:n.1623A>G
NM_002180.3:c.1525A>G MANE Select	NP_002171.2:p.Lys509Glu