Canonical Allele Identifier: CA381653014

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936679-A-G
• MyVariant Identifiers: chr11:g.68704147A>G (hg19) ; chr11:g.68936679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936679A>G , CM000673.2:g.68936679A>G	GRCh38
NC_000011.9:g.68704147A>G , CM000673.1:g.68704147A>G	GRCh37
NC_000011.8:g.68460723A>G	NCBI36
NG_007976.1:g.37829A>G , LRG_250:g.37829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2199A>G MANE Select	ENSP00000255078.4:p.Ile733Met
ENST00000674675.1:c.443A>G
ENST00000674878.1:c.443A>G
ENST00000674955.1:c.*916A>G	ENSP00000502463.1:n.*916A>G
ENST00000675118.1:c.1687A>G
ENST00000675389.1:n.474A>G
ENST00000675615.1:c.2199A>G	ENSP00000502413.1:p.Ile733Met
ENST00000675648.1:n.1574A>G
ENST00000675916.1:c.443A>G
ENST00000676173.1:n.2944A>G
ENST00000676182.1:c.630A>G
ENST00000676228.1:c.*1522A>G	ENSP00000502375.1:n.*1522A>G
ENST00000255078.7:c.2199A>G	ENSP00000255078.3:p.Ile733Met
ENST00000539064.5:n.1958A>G
ENST00000543739.5:n.1192A>G
NM_002180.2:c.2199A>G , LRG_250t1:c.2199A>G	NP_002171.2:p.Ile733Met
XM_005273974.2:c.1188A>G	XP_005274031.1:p.Ile396Met
XM_005273975.2:c.1071A>G	XP_005274032.1:p.Ile357Met
XM_011544994.1:c.966A>G	XP_011543296.1:p.Ile322Met
XR_949903.1:n.2301A>G
XM_005273975.3:c.1071A>G	XP_005274032.1:p.Ile357Met
XM_017017669.2:c.1188A>G	XP_016873158.1:p.Ile396Met
XM_017017670.2:c.1188A>G	XP_016873159.1:p.Ile396Met
XR_949903.3:n.2297A>G
NM_002180.3:c.2199A>G MANE Select	NP_002171.2:p.Ile733Met