Canonical Allele Identifier: CA223385474

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1160382
• ClinVar RCV Id: RCV001504488
• dbSNP Id: rs932085759
• gnomAD v2: 11-68675623-G-C
• gnomAD v4: 11-68908155-G-C
• MyVariant Identifiers: chr11:g.68675623G>C (hg19) ; chr11:g.68908155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908155G>C , CM000673.2:g.68908155G>C	GRCh38
NC_000011.9:g.68675623G>C , CM000673.1:g.68675623G>C	GRCh37
NC_000011.8:g.68432199G>C	NCBI36
NG_007976.1:g.9305G>C , LRG_250:g.9305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.267G>C MANE Select	ENSP00000255078.4:p.Val89=
ENST00000539224.2:c.230G>C
ENST00000674583.1:c.230G>C
ENST00000674597.1:c.78G>C
ENST00000674955.1:c.267G>C	ENSP00000502463.1:p.Val89=
ENST00000675142.1:n.230G>C
ENST00000675469.1:c.143G>C
ENST00000675615.1:c.267G>C	ENSP00000502413.1:p.Val89=
ENST00000675674.1:n.230G>C
ENST00000675873.1:c.230G>C
ENST00000676173.1:n.311G>C
ENST00000676228.1:c.267G>C	ENSP00000502375.1:p.Val89=
ENST00000255078.7:c.267G>C	ENSP00000255078.3:p.Val89=
ENST00000539224.1:c.267G>C	ENSP00000440465.1:p.Val89=
ENST00000544541.1:c.*7G>C	ENSP00000443343.1:n.*7G>C
ENST00000545146.1:c.*137G>C	ENSP00000456366.1:n.*137G>C
NM_002180.2:c.267G>C , LRG_250t1:c.267G>C	NP_002171.2:p.Val89=
XM_005273974.2:c.-745G>C	XP_005274031.1:n.-745G>C
XM_005273976.1:c.267G>C	XP_005274033.1:p.Val89=
XR_247198.1:n.369G>C
XR_949903.1:n.369G>C
XM_005273976.2:c.267G>C	XP_005274033.1:p.Val89=
XM_017017669.2:c.-647G>C	XP_016873158.1:n.-647G>C
XM_017017671.2:c.267G>C	XP_016873160.1:p.Val89=
XR_949903.3:n.365G>C
NM_002180.3:c.267G>C MANE Select	NP_002171.2:p.Val89=