Canonical Allele Identifier: CA381653099

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1283975818
• gnomAD v4: 11-68936714-A-G
• MyVariant Identifiers: chr11:g.68704182A>G (hg19) ; chr11:g.68936714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936714A>G , CM000673.2:g.68936714A>G	GRCh38
NC_000011.9:g.68704182A>G , CM000673.1:g.68704182A>G	GRCh37
NC_000011.8:g.68460758A>G	NCBI36
NG_007976.1:g.37864A>G , LRG_250:g.37864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2234A>G MANE Select	ENSP00000255078.4:p.Glu745Gly
ENST00000674675.1:c.478A>G
ENST00000674878.1:c.478A>G
ENST00000674955.1:c.*951A>G	ENSP00000502463.1:n.*951A>G
ENST00000675118.1:c.1722A>G
ENST00000675389.1:n.509A>G
ENST00000675615.1:c.2234A>G	ENSP00000502413.1:p.Glu745Gly
ENST00000675648.1:n.1609A>G
ENST00000675916.1:c.478A>G
ENST00000676173.1:n.2979A>G
ENST00000676182.1:c.665A>G
ENST00000676228.1:c.*1557A>G	ENSP00000502375.1:n.*1557A>G
ENST00000255078.7:c.2234A>G	ENSP00000255078.3:p.Glu745Gly
ENST00000539064.5:n.1993A>G
ENST00000543739.5:n.1227A>G
NM_002180.2:c.2234A>G , LRG_250t1:c.2234A>G	NP_002171.2:p.Glu745Gly
XM_005273974.2:c.1223A>G	XP_005274031.1:p.Glu408Gly
XM_005273975.2:c.1106A>G	XP_005274032.1:p.Glu369Gly
XM_011544994.1:c.1001A>G	XP_011543296.1:p.Glu334Gly
XR_949903.1:n.2336A>G
XM_005273975.3:c.1106A>G	XP_005274032.1:p.Glu369Gly
XM_017017669.2:c.1223A>G	XP_016873158.1:p.Glu408Gly
XM_017017670.2:c.1223A>G	XP_016873159.1:p.Glu408Gly
XR_949903.3:n.2332A>G
NM_002180.3:c.2234A>G MANE Select	NP_002171.2:p.Glu745Gly