Canonical Allele Identifier: CA381643219

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1858282116
• gnomAD v4: 11-68908252-C-T
• COSMIC: COSM5839441
• MyVariant Identifiers: chr11:g.68675720C>T (hg19) ; chr11:g.68908252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908252C>T , CM000673.2:g.68908252C>T	GRCh38
NC_000011.9:g.68675720C>T , CM000673.1:g.68675720C>T	GRCh37
NC_000011.8:g.68432296C>T	NCBI36
NG_007976.1:g.9402C>T , LRG_250:g.9402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.364C>T MANE Select	ENSP00000255078.4:p.His122Tyr
ENST00000539224.2:c.327C>T
ENST00000674583.1:c.327C>T
ENST00000674597.1:c.175C>T
ENST00000674955.1:c.364C>T	ENSP00000502463.1:p.His122Tyr
ENST00000675142.1:n.327C>T
ENST00000675469.1:c.240C>T
ENST00000675615.1:c.364C>T	ENSP00000502413.1:p.His122Tyr
ENST00000675674.1:n.327C>T
ENST00000675873.1:c.327C>T
ENST00000676173.1:n.408C>T
ENST00000676228.1:c.364C>T	ENSP00000502375.1:p.His122Tyr
ENST00000255078.7:c.364C>T	ENSP00000255078.3:p.His122Tyr
ENST00000539224.1:c.364C>T	ENSP00000440465.1:p.His122Tyr
ENST00000544541.1:c.*104C>T	ENSP00000443343.1:n.*104C>T
NM_002180.2:c.364C>T , LRG_250t1:c.364C>T	NP_002171.2:p.His122Tyr
XM_005273974.2:c.-648C>T	XP_005274031.1:n.-648C>T
XM_005273976.1:c.364C>T	XP_005274033.1:p.His122Tyr
XR_247198.1:n.466C>T
XR_949903.1:n.466C>T
XM_005273976.2:c.364C>T	XP_005274033.1:p.His122Tyr
XM_017017669.2:c.-550C>T	XP_016873158.1:n.-550C>T
XM_017017671.2:c.364C>T	XP_016873160.1:p.His122Tyr
XR_949903.3:n.462C>T
NM_002180.3:c.364C>T MANE Select	NP_002171.2:p.His122Tyr