Canonical Allele Identifier: CA475201853

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1272910732
• gnomAD v2: 11-68701371-A-G
• MyVariant Identifiers: chr11:g.68701371A>G (hg19) ; chr11:g.68933903A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933903A>G , CM000673.2:g.68933903A>G	GRCh38
NC_000011.9:g.68701371A>G , CM000673.1:g.68701371A>G	GRCh37
NC_000011.8:g.68457947A>G	NCBI36
NG_007976.1:g.35053A>G , LRG_250:g.35053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1527A>G MANE Select	ENSP00000255078.4:p.Lys509=
ENST00000674955.1:c.*244A>G	ENSP00000502463.1:n.*244A>G
ENST00000675118.1:c.1015A>G
ENST00000675205.1:n.183+422A>G
ENST00000675615.1:c.1527A>G	ENSP00000502413.1:p.Lys509=
ENST00000675648.1:n.902A>G
ENST00000675997.1:n.113-561A>G
ENST00000676173.1:n.2272A>G
ENST00000676228.1:c.*850A>G	ENSP00000502375.1:n.*850A>G
ENST00000255078.7:c.1527A>G	ENSP00000255078.3:p.Lys509=
ENST00000537458.5:n.644A>G
ENST00000539064.5:n.1286A>G
ENST00000541229.5:n.222A>G
ENST00000543739.5:n.644A>G
NM_002180.2:c.1527A>G , LRG_250t1:c.1527A>G	NP_002171.2:p.Lys509=
XM_005273974.2:c.516A>G	XP_005274031.1:p.Lys172=
XM_005273975.2:c.399A>G	XP_005274032.1:p.Lys133=
XM_011544994.1:c.294A>G	XP_011543296.1:p.Lys98=
XR_949903.1:n.1629A>G
XM_005273975.3:c.399A>G	XP_005274032.1:p.Lys133=
XM_017017669.2:c.516A>G	XP_016873158.1:p.Lys172=
XM_017017670.2:c.516A>G	XP_016873159.1:p.Lys172=
XM_017017671.2:c.1527A>G	XP_016873160.1:p.Lys509=
XR_949903.3:n.1625A>G
NM_002180.3:c.1527A>G MANE Select	NP_002171.2:p.Lys509=