Canonical Allele Identifier: CA381649657

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1202508
• ClinVar RCV Id: RCV001568209 ; RCV003771731
• dbSNP Id: rs2154008642
• gnomAD v4: 11-68933808-G-A
• MyVariant Identifiers: chr11:g.68701276G>A (hg19) ; chr11:g.68933808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933808G>A , CM000673.2:g.68933808G>A	GRCh38
NC_000011.9:g.68701276G>A , CM000673.1:g.68701276G>A	GRCh37
NC_000011.8:g.68457852G>A	NCBI36
NG_007976.1:g.34958G>A , LRG_250:g.34958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1432G>A MANE Select	ENSP00000255078.4:p.Val478Met
ENST00000674955.1:c.*149G>A	ENSP00000502463.1:n.*149G>A
ENST00000675118.1:c.920G>A
ENST00000675205.1:n.183+327G>A
ENST00000675615.1:c.1432G>A	ENSP00000502413.1:p.Val478Met
ENST00000675648.1:n.807G>A
ENST00000675997.1:n.113-656G>A
ENST00000676173.1:n.2177G>A
ENST00000676228.1:c.*755G>A	ENSP00000502375.1:n.*755G>A
ENST00000255078.7:c.1432G>A	ENSP00000255078.3:p.Val478Met
ENST00000537458.5:n.549G>A
ENST00000539064.5:n.1191G>A
ENST00000541229.5:n.127G>A
ENST00000543739.5:n.549G>A
NM_002180.2:c.1432G>A , LRG_250t1:c.1432G>A	NP_002171.2:p.Val478Met
XM_005273974.2:c.421G>A	XP_005274031.1:p.Val141Met
XM_005273975.2:c.304G>A	XP_005274032.1:p.Val102Met
XM_011544994.1:c.199G>A	XP_011543296.1:p.Val67Met
XR_949903.1:n.1534G>A
XM_005273975.3:c.304G>A	XP_005274032.1:p.Val102Met
XM_017017669.2:c.421G>A	XP_016873158.1:p.Val141Met
XM_017017670.2:c.421G>A	XP_016873159.1:p.Val141Met
XM_017017671.2:c.1432G>A	XP_016873160.1:p.Val478Met
XR_949903.3:n.1530G>A
NM_002180.3:c.1432G>A MANE Select	NP_002171.2:p.Val478Met