Canonical Allele Identifier: CA381649485

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 637466
• ClinVar RCV Id: RCV000789655
• dbSNP Id: rs1594451536
• gnomAD v4: 11-68933478-T-C
• MyVariant Identifiers: chr11:g.68700946T>C (hg19) ; chr11:g.68933478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933478T>C , CM000673.2:g.68933478T>C	GRCh38
NC_000011.9:g.68700946T>C , CM000673.1:g.68700946T>C	GRCh37
NC_000011.8:g.68457522T>C	NCBI36
NG_007976.1:g.34628T>C , LRG_250:g.34628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1415T>C MANE Select	ENSP00000255078.4:p.Leu472Pro
ENST00000536803.2:n.326T>C
ENST00000674955.1:c.*132T>C	ENSP00000502463.1:n.*132T>C
ENST00000675118.1:c.903T>C
ENST00000675205.1:n.180T>C
ENST00000675310.1:n.552T>C
ENST00000675615.1:c.1415T>C	ENSP00000502413.1:p.Leu472Pro
ENST00000675648.1:n.790T>C
ENST00000675997.1:n.113-986T>C
ENST00000676149.1:n.489T>C
ENST00000676173.1:n.2160T>C
ENST00000676228.1:c.*738T>C	ENSP00000502375.1:n.*738T>C
ENST00000255078.7:c.1415T>C	ENSP00000255078.3:p.Leu472Pro
ENST00000537458.5:n.532T>C
ENST00000539064.5:n.1174T>C
ENST00000543739.5:n.532T>C
NM_002180.2:c.1415T>C , LRG_250t1:c.1415T>C	NP_002171.2:p.Leu472Pro
XM_005273974.2:c.404T>C	XP_005274031.1:p.Leu135Pro
XM_005273975.2:c.287T>C	XP_005274032.1:p.Leu96Pro
XM_011544994.1:c.182T>C	XP_011543296.1:p.Leu61Pro
XR_949903.1:n.1517T>C
XM_005273975.3:c.287T>C	XP_005274032.1:p.Leu96Pro
XM_017017669.2:c.404T>C	XP_016873158.1:p.Leu135Pro
XM_017017670.2:c.404T>C	XP_016873159.1:p.Leu135Pro
XM_017017671.2:c.1415T>C	XP_016873160.1:p.Leu472Pro
XR_949903.3:n.1513T>C
NM_002180.3:c.1415T>C MANE Select	NP_002171.2:p.Leu472Pro