Canonical Allele Identifier: CA223413463

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1472977
• ClinVar RCV Id: RCV001969428
• dbSNP Id: rs771844457
• gnomAD v2: 11-68704121-G-A
• gnomAD v3: 11-68936653-G-A
• gnomAD v4: 11-68936653-G-A
• MyVariant Identifiers: chr11:g.68704121G>A (hg19) ; chr11:g.68936653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936653G>A , CM000673.2:g.68936653G>A	GRCh38
NC_000011.9:g.68704121G>A , CM000673.1:g.68704121G>A	GRCh37
NC_000011.8:g.68460697G>A	NCBI36
NG_007976.1:g.37803G>A , LRG_250:g.37803G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2173G>A MANE Select	ENSP00000255078.4:p.Gly725Ser
ENST00000674675.1:c.417G>A
ENST00000674878.1:c.417G>A
ENST00000674955.1:c.*890G>A	ENSP00000502463.1:n.*890G>A
ENST00000675118.1:c.1661G>A
ENST00000675389.1:n.448G>A
ENST00000675615.1:c.2173G>A	ENSP00000502413.1:p.Gly725Ser
ENST00000675648.1:n.1548G>A
ENST00000675916.1:c.417G>A
ENST00000676173.1:n.2918G>A
ENST00000676182.1:c.604G>A
ENST00000676228.1:c.*1496G>A	ENSP00000502375.1:n.*1496G>A
ENST00000255078.7:c.2173G>A	ENSP00000255078.3:p.Gly725Ser
ENST00000539064.5:n.1932G>A
ENST00000543739.5:n.1166G>A
NM_002180.2:c.2173G>A , LRG_250t1:c.2173G>A	NP_002171.2:p.Gly725Ser
XM_005273974.2:c.1162G>A	XP_005274031.1:p.Gly388Ser
XM_005273975.2:c.1045G>A	XP_005274032.1:p.Gly349Ser
XM_011544994.1:c.940G>A	XP_011543296.1:p.Gly314Ser
XR_949903.1:n.2275G>A
XM_005273975.3:c.1045G>A	XP_005274032.1:p.Gly349Ser
XM_017017669.2:c.1162G>A	XP_016873158.1:p.Gly388Ser
XM_017017670.2:c.1162G>A	XP_016873159.1:p.Gly388Ser
XR_949903.3:n.2271G>A
NM_002180.3:c.2173G>A MANE Select	NP_002171.2:p.Gly725Ser