Canonical Allele Identifier: CA381643455

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 852485
• ClinVar RCV Id: RCV001057100
• dbSNP Id: rs1858294631
• MyVariant Identifiers: chr11:g.68676022A>T (hg19) ; chr11:g.68908554A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908554A>T , CM000673.2:g.68908554A>T	GRCh38
NC_000011.9:g.68676022A>T , CM000673.1:g.68676022A>T	GRCh37
NC_000011.8:g.68432598A>T	NCBI36
NG_007976.1:g.9704A>T , LRG_250:g.9704A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.470A>T MANE Select	ENSP00000255078.4:p.Lys157Met
ENST00000539224.2:c.433A>T
ENST00000674583.1:c.433A>T
ENST00000674597.1:c.281A>T
ENST00000674955.1:c.470A>T	ENSP00000502463.1:p.Lys157Met
ENST00000675142.1:n.433A>T
ENST00000675469.1:c.346A>T
ENST00000675615.1:c.470A>T	ENSP00000502413.1:p.Lys157Met
ENST00000675674.1:n.433A>T
ENST00000675683.1:c.21A>T
ENST00000675873.1:c.433A>T
ENST00000676173.1:n.514A>T
ENST00000676228.1:c.449+217A>T	ENSP00000502375.1:n.449+217A>T
ENST00000255078.7:c.470A>T	ENSP00000255078.3:p.Lys157Met
ENST00000539224.1:c.449+217A>T	ENSP00000440465.1:n.449+217A>T
ENST00000544541.1:c.*210A>T	ENSP00000443343.1:n.*210A>T
NM_002180.2:c.470A>T , LRG_250t1:c.470A>T	NP_002171.2:p.Lys157Met
XM_005273974.2:c.-542A>T	XP_005274031.1:n.-542A>T
XM_005273976.1:c.470A>T	XP_005274033.1:p.Lys157Met
XR_247198.1:n.572A>T
XR_949903.1:n.572A>T
XM_005273976.2:c.470A>T	XP_005274033.1:p.Lys157Met
XM_017017669.2:c.-465+217A>T	XP_016873158.1:n.-465+217A>T
XM_017017671.2:c.470A>T	XP_016873160.1:p.Lys157Met
XR_949903.3:n.568A>T
NM_002180.3:c.470A>T MANE Select	NP_002171.2:p.Lys157Met