Canonical Allele Identifier: CA381652956

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1392904558
• gnomAD v2: 11-68704118-G-A
• MyVariant Identifiers: chr11:g.68704118G>A (hg19) ; chr11:g.68936650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936650G>A , CM000673.2:g.68936650G>A	GRCh38
NC_000011.9:g.68704118G>A , CM000673.1:g.68704118G>A	GRCh37
NC_000011.8:g.68460694G>A	NCBI36
NG_007976.1:g.37800G>A , LRG_250:g.37800G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2170G>A MANE Select	ENSP00000255078.4:p.Asp724Asn
ENST00000674675.1:c.414G>A
ENST00000674878.1:c.414G>A
ENST00000674955.1:c.*887G>A	ENSP00000502463.1:n.*887G>A
ENST00000675118.1:c.1658G>A
ENST00000675389.1:n.445G>A
ENST00000675615.1:c.2170G>A	ENSP00000502413.1:p.Asp724Asn
ENST00000675648.1:n.1545G>A
ENST00000675916.1:c.414G>A
ENST00000676173.1:n.2915G>A
ENST00000676182.1:c.601G>A
ENST00000676228.1:c.*1493G>A	ENSP00000502375.1:n.*1493G>A
ENST00000255078.7:c.2170G>A	ENSP00000255078.3:p.Asp724Asn
ENST00000539064.5:n.1929G>A
ENST00000543739.5:n.1163G>A
NM_002180.2:c.2170G>A , LRG_250t1:c.2170G>A	NP_002171.2:p.Asp724Asn
XM_005273974.2:c.1159G>A	XP_005274031.1:p.Asp387Asn
XM_005273975.2:c.1042G>A	XP_005274032.1:p.Asp348Asn
XM_011544994.1:c.937G>A	XP_011543296.1:p.Asp313Asn
XR_949903.1:n.2272G>A
XM_005273975.3:c.1042G>A	XP_005274032.1:p.Asp348Asn
XM_017017669.2:c.1159G>A	XP_016873158.1:p.Asp387Asn
XM_017017670.2:c.1159G>A	XP_016873159.1:p.Asp387Asn
XR_949903.3:n.2268G>A
NM_002180.3:c.2170G>A MANE Select	NP_002171.2:p.Asp724Asn