Canonical Allele Identifier: CA404263550

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• dbSNP Id: rs11554405
• gnomAD v2: 19-12917597-G-T
• gnomAD v4: 19-12806783-G-T
• MyVariant Identifiers: chr19:g.12917597G>T (hg19) ; chr19:g.12806783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806783G>T , CM000681.2:g.12806783G>T	GRCh38
NC_000019.9:g.12917597G>T , CM000681.1:g.12917597G>T	GRCh37
NC_000019.8:g.12778597G>T	NCBI36
NG_012662.1:g.5170G>T , LRG_278:g.5170G>T
NG_029901.1:g.98C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221486.6:c.110G>T (RNASEH2A) MANE Select	ENSP00000221486.4:p.Gly37Val
ENST00000590121.2:c.107G>T (RNASEH2A)	ENSP00000495087.1:p.Gly36Val
ENST00000590279.2:n.192G>T (RNASEH2A)
ENST00000593017.2:n.100G>T (RNASEH2A)
ENST00000639767.2:c.*7-225G>T (THSD8)	ENSP00000491410.2:n.*7-225G>T
ENST00000643364.1:n.794G>T (THSD8)
ENST00000646769.1:c.110G>T (RNASEH2A)	ENSP00000495175.1:p.Gly37Val
ENST00000221486.4:c.110G>T (RNASEH2A)	ENSP00000221486.3:p.Gly37Val
ENST00000589765.1:n.41+18395C>A (HOOK2)
ENST00000590121.1:n.107G>T (RNASEH2A)
ENST00000590279.1:n.100G>T (RNASEH2A)
ENST00000593017.1:n.192G>T (RNASEH2A)
NM_006397.2:c.110G>T , LRG_278t1:c.110G>T (RNASEH2A)	NP_006388.2:p.Gly37Val
XM_006722619.2:c.-5-225G>T (RNASEH2A)	XP_006722682.1:n.-5-225G>T
NM_006397.3:c.110G>T (RNASEH2A) MANE Select	NP_006388.2:p.Gly37Val