Canonical Allele Identifier: CA381653038

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2617683
• ClinVar RCV Id: RCV003384720
• gnomAD v4: 11-68936690-T-C
• MyVariant Identifiers: chr11:g.68704158T>C (hg19) ; chr11:g.68936690T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2210T>C MANE Select	ENSP00000255078.4:p.Met737Thr
ENST00000674675.1:c.454T>C
ENST00000674878.1:c.454T>C
ENST00000674955.1:c.*927T>C	ENSP00000502463.1:n.*927T>C
ENST00000675118.1:c.1698T>C
ENST00000675389.1:n.485T>C
ENST00000675615.1:c.2210T>C	ENSP00000502413.1:p.Met737Thr
ENST00000675648.1:n.1585T>C
ENST00000675916.1:c.454T>C
ENST00000676173.1:n.2955T>C
ENST00000676182.1:c.641T>C
ENST00000676228.1:c.*1533T>C	ENSP00000502375.1:n.*1533T>C
ENST00000255078.7:c.2210T>C	ENSP00000255078.3:p.Met737Thr
ENST00000539064.5:n.1969T>C
ENST00000543739.5:n.1203T>C
NM_002180.2:c.2210T>C , LRG_250t1:c.2210T>C	NP_002171.2:p.Met737Thr
XM_005273974.2:c.1199T>C	XP_005274031.1:p.Met400Thr
XM_005273975.2:c.1082T>C	XP_005274032.1:p.Met361Thr
XM_011544994.1:c.977T>C	XP_011543296.1:p.Met326Thr
XR_949903.1:n.2312T>C
XM_005273975.3:c.1082T>C	XP_005274032.1:p.Met361Thr
XM_017017669.2:c.1199T>C	XP_016873158.1:p.Met400Thr
XM_017017670.2:c.1199T>C	XP_016873159.1:p.Met400Thr
XR_949903.3:n.2308T>C
NM_002180.3:c.2210T>C MANE Select	NP_002171.2:p.Met737Thr