Canonical Allele Identifier: CA6153384

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1062331
• ClinVar RCV Id: RCV001372032
• dbSNP Id: rs775600808
• ExAC: 11:68682309 T / G
• gnomAD v2: 11-68682309-T-G
• gnomAD v4: 11-68914841-T-G
• MyVariant Identifiers: chr11:g.68682309T>G (hg19) ; chr11:g.68914841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914841T>G , CM000673.2:g.68914841T>G	GRCh38
NC_000011.9:g.68682309T>G , CM000673.1:g.68682309T>G	GRCh37
NC_000011.8:g.68438885T>G	NCBI36
NG_007976.1:g.15991T>G , LRG_250:g.15991T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.730T>G MANE Select	ENSP00000255078.4:p.Ser244Ala
ENST00000539224.2:c.859T>G
ENST00000674955.1:c.730T>G	ENSP00000502463.1:p.Ser244Ala
ENST00000675118.1:c.77T>G
ENST00000675119.1:c.19T>G	ENSP00000501861.1:p.Ser7Ala
ENST00000675305.1:c.19T>G	ENSP00000502365.1:p.Ser7Ala
ENST00000675464.1:c.19T>G	ENSP00000502650.1:p.Ser7Ala
ENST00000675615.1:c.730T>G	ENSP00000502413.1:p.Ser244Ala
ENST00000675683.1:c.117T>G
ENST00000676173.1:n.774T>G
ENST00000676228.1:c.*53T>G	ENSP00000502375.1:n.*53T>G
ENST00000676239.1:n.44T>G
ENST00000255078.7:c.730T>G	ENSP00000255078.3:p.Ser244Ala
ENST00000539224.1:c.*53T>G	ENSP00000440465.1:n.*53T>G
NM_002180.2:c.730T>G , LRG_250t1:c.730T>G	NP_002171.2:p.Ser244Ala
XM_005273974.2:c.-282T>G	XP_005274031.1:n.-282T>G
XM_005273976.1:c.730T>G	XP_005274033.1:p.Ser244Ala
XR_247198.1:n.832T>G
XR_949903.1:n.832T>G
XM_005273976.2:c.730T>G	XP_005274033.1:p.Ser244Ala
XM_017017669.2:c.-282T>G	XP_016873158.1:n.-282T>G
XM_017017670.2:c.-282T>G	XP_016873159.1:n.-282T>G
XM_017017671.2:c.730T>G	XP_016873160.1:p.Ser244Ala
XR_949903.3:n.828T>G
NM_002180.3:c.730T>G MANE Select	NP_002171.2:p.Ser244Ala