Canonical Allele Identifier: CA460059988
Gene: ESCO2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.27645483A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27787966A>G , CM000670.2:g.27787966A>G GRCh38
NC_000008.10:g.27645483A>G , CM000670.1:g.27645483A>G GRCh37
NC_000008.9:g.27701402A>G NCBI36
NG_008117.1:g.18426A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305188.13:c.1095A>G MANE Select ENSP00000306999.8:p.Arg365=
ENST00000305188.12:c.1095A>G ENSP00000306999.8:p.Arg365=
ENST00000397418.4:c.39A>G ENSP00000380563.2:p.Arg13=
ENST00000518262.5:c.209A>G
ENST00000522378.5:c.*70A>G ENSP00000428928.1:n.*70A>G
NM_001017420.2:c.1095A>G NP_001017420.1:p.Arg365=
XM_011544421.1:c.1095A>G XP_011542723.1:p.Arg365=
XM_011544422.1:c.1095A>G XP_011542724.1:p.Arg365=
XR_949378.1:n.1179A>G
XR_949379.1:n.1179A>G
XM_011544421.2:c.1095A>G XP_011542723.1:p.Arg365=
XM_011544422.2:c.1095A>G XP_011542724.1:p.Arg365=
XR_949378.3:n.1179A>G
NM_001017420.3:c.1095A>G MANE Select NP_001017420.1:p.Arg365=