Canonical Allele Identifier: CA9231723

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• dbSNP Id: rs764738825
• ExAC: 19:12917604 C / G
• gnomAD v2: 19-12917604-C-G
• gnomAD v4: 19-12806790-C-G
• MyVariant Identifiers: chr19:g.12917604C>G (hg19) ; chr19:g.12806790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806790C>G , CM000681.2:g.12806790C>G	GRCh38
NC_000019.9:g.12917604C>G , CM000681.1:g.12917604C>G	GRCh37
NC_000019.8:g.12778604C>G	NCBI36
NG_012662.1:g.5177C>G , LRG_278:g.5177C>G
NG_029901.1:g.91G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221486.6:c.117C>G (RNASEH2A) MANE Select	ENSP00000221486.4:p.Gly39=
ENST00000590121.2:c.114C>G (RNASEH2A)	ENSP00000495087.1:p.Gly38=
ENST00000590279.2:n.199C>G (RNASEH2A)
ENST00000593017.2:n.107C>G (RNASEH2A)
ENST00000639767.2:c.*7-218C>G (THSD8)	ENSP00000491410.2:n.*7-218C>G
ENST00000643364.1:n.801C>G (THSD8)
ENST00000646769.1:c.117C>G (RNASEH2A)	ENSP00000495175.1:p.Gly39=
ENST00000221486.4:c.117C>G (RNASEH2A)	ENSP00000221486.3:p.Gly39=
ENST00000589765.1:n.41+18388G>C (HOOK2)
ENST00000590121.1:n.114C>G (RNASEH2A)
ENST00000590279.1:n.107C>G (RNASEH2A)
ENST00000593017.1:n.199C>G (RNASEH2A)
NM_006397.2:c.117C>G , LRG_278t1:c.117C>G (RNASEH2A)	NP_006388.2:p.Gly39=
XM_006722619.2:c.-5-218C>G (RNASEH2A)	XP_006722682.1:n.-5-218C>G
NM_006397.3:c.117C>G (RNASEH2A) MANE Select	NP_006388.2:p.Gly39=