Canonical Allele Identifier: CA475280719

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs747755991
• gnomAD v2: 11-68704189-T-C
• gnomAD v4: 11-68936721-T-C
• MyVariant Identifiers: chr11:g.68704189T>C (hg19) ; chr11:g.68936721T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936721T>C , CM000673.2:g.68936721T>C	GRCh38
NC_000011.9:g.68704189T>C , CM000673.1:g.68704189T>C	GRCh37
NC_000011.8:g.68460765T>C	NCBI36
NG_007976.1:g.37871T>C , LRG_250:g.37871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2241T>C MANE Select	ENSP00000255078.4:p.Pro747=
ENST00000674675.1:c.485T>C
ENST00000674878.1:c.485T>C
ENST00000674955.1:c.*958T>C	ENSP00000502463.1:n.*958T>C
ENST00000675118.1:c.1729T>C
ENST00000675389.1:n.516T>C
ENST00000675615.1:c.2241T>C	ENSP00000502413.1:p.Pro747=
ENST00000675648.1:n.1616T>C
ENST00000675916.1:c.485T>C
ENST00000676173.1:n.2986T>C
ENST00000676182.1:c.672T>C
ENST00000676228.1:c.*1564T>C	ENSP00000502375.1:n.*1564T>C
ENST00000255078.7:c.2241T>C	ENSP00000255078.3:p.Pro747=
ENST00000539064.5:n.2000T>C
ENST00000543739.5:n.1234T>C
NM_002180.2:c.2241T>C , LRG_250t1:c.2241T>C	NP_002171.2:p.Pro747=
XM_005273974.2:c.1230T>C	XP_005274031.1:p.Pro410=
XM_005273975.2:c.1113T>C	XP_005274032.1:p.Pro371=
XM_011544994.1:c.1008T>C	XP_011543296.1:p.Pro336=
XR_949903.1:n.2343T>C
XM_005273975.3:c.1113T>C	XP_005274032.1:p.Pro371=
XM_017017669.2:c.1230T>C	XP_016873158.1:p.Pro410=
XM_017017670.2:c.1230T>C	XP_016873159.1:p.Pro410=
XR_949903.3:n.2339T>C
NM_002180.3:c.2241T>C MANE Select	NP_002171.2:p.Pro747=