Canonical Allele Identifier: CA381653039

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1204049098
• gnomAD v2: 11-68704158-T-G
• gnomAD v3: 11-68936690-T-G
• gnomAD v4: 11-68936690-T-G
• MyVariant Identifiers: chr11:g.68704158T>G (hg19) ; chr11:g.68936690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936690T>G , CM000673.2:g.68936690T>G	GRCh38
NC_000011.9:g.68704158T>G , CM000673.1:g.68704158T>G	GRCh37
NC_000011.8:g.68460734T>G	NCBI36
NG_007976.1:g.37840T>G , LRG_250:g.37840T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2210T>G MANE Select	ENSP00000255078.4:p.Met737Arg
ENST00000674675.1:c.454T>G
ENST00000674878.1:c.454T>G
ENST00000674955.1:c.*927T>G	ENSP00000502463.1:n.*927T>G
ENST00000675118.1:c.1698T>G
ENST00000675389.1:n.485T>G
ENST00000675615.1:c.2210T>G	ENSP00000502413.1:p.Met737Arg
ENST00000675648.1:n.1585T>G
ENST00000675916.1:c.454T>G
ENST00000676173.1:n.2955T>G
ENST00000676182.1:c.641T>G
ENST00000676228.1:c.*1533T>G	ENSP00000502375.1:n.*1533T>G
ENST00000255078.7:c.2210T>G	ENSP00000255078.3:p.Met737Arg
ENST00000539064.5:n.1969T>G
ENST00000543739.5:n.1203T>G
NM_002180.2:c.2210T>G , LRG_250t1:c.2210T>G	NP_002171.2:p.Met737Arg
XM_005273974.2:c.1199T>G	XP_005274031.1:p.Met400Arg
XM_005273975.2:c.1082T>G	XP_005274032.1:p.Met361Arg
XM_011544994.1:c.977T>G	XP_011543296.1:p.Met326Arg
XR_949903.1:n.2312T>G
XM_005273975.3:c.1082T>G	XP_005274032.1:p.Met361Arg
XM_017017669.2:c.1199T>G	XP_016873158.1:p.Met400Arg
XM_017017670.2:c.1199T>G	XP_016873159.1:p.Met400Arg
XR_949903.3:n.2308T>G
NM_002180.3:c.2210T>G MANE Select	NP_002171.2:p.Met737Arg