Canonical Allele Identifier: CA345500

Gene: RNASEH2A THSD8 HOOK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813161_12813162dup , CM000681.2:g.12813161_12813162dup	GRCh38
NC_000019.9:g.12923975_12923976dup , CM000681.1:g.12923975_12923976dup	GRCh37
NC_000019.8:g.12784975_12784976dup	NCBI36
NG_012662.1:g.11548_11549dup , LRG_278:g.11548_11549dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221486.6:c.716_717dup (RNASEH2A) MANE Select	ENSP00000221486.4:p.Thr240AlafsTer?
ENST00000593017.2:n.1002_1003dup (RNASEH2A)
ENST00000639767.2:c.*595_*596dup (THSD8)	ENSP00000491410.2:n.*595_*596dup
ENST00000643757.1:n.751_752dup (RNASEH2A)
ENST00000646769.1:c.*376_*377dup (RNASEH2A)	ENSP00000495175.1:n.*376_*377dup
ENST00000221486.4:c.716_717dup (RNASEH2A)	ENSP00000221486.3:p.Thr240AlafsTer?
ENST00000589765.1:n.41+12018_41+12019dup (HOOK2)
ENST00000593017.1:n.1131_1132dup (RNASEH2A)
NM_006397.2:c.716_717dup , LRG_278t1:c.716_717dup (RNASEH2A)	NP_006388.2:p.Thr240AlafsTer?
XM_006722619.2:c.584_585dup (RNASEH2A)	XP_006722682.1:p.Thr196AlafsTer?
NM_006397.3:c.716_717dup (RNASEH2A) MANE Select	NP_006388.2:p.Thr240AlafsTer?