Canonical Allele Identifier: CA381650205

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs756493997
• gnomAD v3: 11-68933886-G-C
• gnomAD v4: 11-68933886-G-C
• MyVariant Identifiers: chr11:g.68701354G>C (hg19) ; chr11:g.68933886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933886G>C , CM000673.2:g.68933886G>C	GRCh38
NC_000011.9:g.68701354G>C , CM000673.1:g.68701354G>C	GRCh37
NC_000011.8:g.68457930G>C	NCBI36
NG_007976.1:g.35036G>C , LRG_250:g.35036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1510G>C MANE Select	ENSP00000255078.4:p.Glu504Gln
ENST00000674955.1:c.*227G>C	ENSP00000502463.1:n.*227G>C
ENST00000675118.1:c.998G>C
ENST00000675205.1:n.183+405G>C
ENST00000675615.1:c.1510G>C	ENSP00000502413.1:p.Glu504Gln
ENST00000675648.1:n.885G>C
ENST00000675997.1:n.113-578G>C
ENST00000676173.1:n.2255G>C
ENST00000676228.1:c.*833G>C	ENSP00000502375.1:n.*833G>C
ENST00000255078.7:c.1510G>C	ENSP00000255078.3:p.Glu504Gln
ENST00000537458.5:n.627G>C
ENST00000539064.5:n.1269G>C
ENST00000541229.5:n.205G>C
ENST00000543739.5:n.627G>C
NM_002180.2:c.1510G>C , LRG_250t1:c.1510G>C	NP_002171.2:p.Glu504Gln
XM_005273974.2:c.499G>C	XP_005274031.1:p.Glu167Gln
XM_005273975.2:c.382G>C	XP_005274032.1:p.Glu128Gln
XM_011544994.1:c.277G>C	XP_011543296.1:p.Glu93Gln
XR_949903.1:n.1612G>C
XM_005273975.3:c.382G>C	XP_005274032.1:p.Glu128Gln
XM_017017669.2:c.499G>C	XP_016873158.1:p.Glu167Gln
XM_017017670.2:c.499G>C	XP_016873159.1:p.Glu167Gln
XM_017017671.2:c.1510G>C	XP_016873160.1:p.Glu504Gln
XR_949903.3:n.1608G>C
NM_002180.3:c.1510G>C MANE Select	NP_002171.2:p.Glu504Gln