Canonical Allele Identifier: CA381653691

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1309766365
• gnomAD v4: 11-68936933-C-T
• MyVariant Identifiers: chr11:g.68704401C>T (hg19) ; chr11:g.68936933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936933C>T , CM000673.2:g.68936933C>T	GRCh38
NC_000011.9:g.68704401C>T , CM000673.1:g.68704401C>T	GRCh37
NC_000011.8:g.68460977C>T	NCBI36
NG_007976.1:g.38083C>T , LRG_250:g.38083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2453C>T MANE Select	ENSP00000255078.4:p.Pro818Leu
ENST00000674675.1:c.598C>T
ENST00000674878.1:c.558C>T
ENST00000675118.1:c.1941C>T
ENST00000675389.1:n.728C>T
ENST00000675615.1:c.2453C>T	ENSP00000502413.1:p.Pro818Leu
ENST00000675648.1:n.1828C>T
ENST00000675916.1:c.697C>T
ENST00000676173.1:n.3198C>T
ENST00000676182.1:c.884C>T
ENST00000676228.1:c.*1776C>T	ENSP00000502375.1:n.*1776C>T
ENST00000255078.7:c.2453C>T	ENSP00000255078.3:p.Pro818Leu
ENST00000539064.5:n.2212C>T
ENST00000543739.5:n.1446C>T
NM_002180.2:c.2453C>T , LRG_250t1:c.2453C>T	NP_002171.2:p.Pro818Leu
XM_005273974.2:c.1442C>T	XP_005274031.1:p.Pro481Leu
XM_005273975.2:c.1325C>T	XP_005274032.1:p.Pro442Leu
XM_011544994.1:c.1220C>T	XP_011543296.1:p.Pro407Leu
XR_949903.1:n.2555C>T
XM_005273975.3:c.1325C>T	XP_005274032.1:p.Pro442Leu
XM_017017669.2:c.1442C>T	XP_016873158.1:p.Pro481Leu
XM_017017670.2:c.1442C>T	XP_016873159.1:p.Pro481Leu
XR_949903.3:n.2551C>T
NM_002180.3:c.2453C>T MANE Select	NP_002171.2:p.Pro818Leu