Canonical Allele Identifier: CA6153916

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs759974087
• ExAC: 11:68704421 C / T
• gnomAD v2: 11-68704421-C-T
• gnomAD v4: 11-68936953-C-T
• MyVariant Identifiers: chr11:g.68704421C>T (hg19) ; chr11:g.68936953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936953C>T , CM000673.2:g.68936953C>T	GRCh38
NC_000011.9:g.68704421C>T , CM000673.1:g.68704421C>T	GRCh37
NC_000011.8:g.68460997C>T	NCBI36
NG_007976.1:g.38103C>T , LRG_250:g.38103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2473C>T MANE Select	ENSP00000255078.4:p.Pro825Ser
ENST00000674675.1:c.618C>T
ENST00000674878.1:c.578C>T
ENST00000675118.1:c.1961C>T
ENST00000675389.1:n.748C>T
ENST00000675615.1:c.2473C>T	ENSP00000502413.1:p.Pro825Ser
ENST00000675648.1:n.1848C>T
ENST00000675916.1:c.717C>T
ENST00000676173.1:n.3218C>T
ENST00000676182.1:c.904C>T
ENST00000676228.1:c.*1796C>T	ENSP00000502375.1:n.*1796C>T
ENST00000255078.7:c.2473C>T	ENSP00000255078.3:p.Pro825Ser
ENST00000539064.5:n.2232C>T
ENST00000543739.5:n.1466C>T
NM_002180.2:c.2473C>T , LRG_250t1:c.2473C>T	NP_002171.2:p.Pro825Ser
XM_005273974.2:c.1462C>T	XP_005274031.1:p.Pro488Ser
XM_005273975.2:c.1345C>T	XP_005274032.1:p.Pro449Ser
XM_011544994.1:c.1240C>T	XP_011543296.1:p.Pro414Ser
XR_949903.1:n.2575C>T
XM_005273975.3:c.1345C>T	XP_005274032.1:p.Pro449Ser
XM_017017669.2:c.1462C>T	XP_016873158.1:p.Pro488Ser
XM_017017670.2:c.1462C>T	XP_016873159.1:p.Pro488Ser
XR_949903.3:n.2571C>T
NM_002180.3:c.2473C>T MANE Select	NP_002171.2:p.Pro825Ser