Canonical Allele Identifier: CA202264

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 196298
• ClinVar RCV Id: RCV000177101 ; RCV000376034 ; RCV000902739 ; RCV001832012
• dbSNP Id: rs201989984
• ExAC: 8:27633972 C / G
• gnomAD v2: 8-27633972-C-G
• gnomAD v3: 8-27776455-C-G
• gnomAD v4: 8-27776455-C-G
• MyVariant Identifiers: chr8:g.27633972C>G (hg19) ; chr8:g.27776455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776455C>G , CM000670.2:g.27776455C>G	GRCh38
NC_000008.10:g.27633972C>G , CM000670.1:g.27633972C>G	GRCh37
NC_000008.9:g.27689891C>G	NCBI36
NG_008117.1:g.6915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.147C>G MANE Select	ENSP00000306999.8:p.Cys49Trp
ENST00000305188.12:c.147C>G	ENSP00000306999.8:p.Cys49Trp
ENST00000519637.1:c.147C>G	ENSP00000428027.1:p.Cys49Trp
ENST00000522378.5:c.147C>G	ENSP00000428928.1:p.Cys49Trp
ENST00000523566.5:c.147C>G	ENSP00000428435.1:p.Cys49Trp
ENST00000524293.1:n.165C>G
NM_001017420.2:c.147C>G	NP_001017420.1:p.Cys49Trp
XM_011544421.1:c.147C>G	XP_011542723.1:p.Cys49Trp
XM_011544422.1:c.147C>G	XP_011542724.1:p.Cys49Trp
XR_949378.1:n.231C>G
XR_949379.1:n.231C>G
XM_011544421.2:c.147C>G	XP_011542723.1:p.Cys49Trp
XM_011544422.2:c.147C>G	XP_011542724.1:p.Cys49Trp
XR_949378.3:n.231C>G
NM_001017420.3:c.147C>G MANE Select	NP_001017420.1:p.Cys49Trp