Canonical Allele Identifier: CA370823027

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2758629
• ClinVar RCV Id: RCV003569795
• MyVariant Identifiers: chr8:g.27645401G>C (hg19) ; chr8:g.27787884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787884G>C , CM000670.2:g.27787884G>C	GRCh38
NC_000008.10:g.27645401G>C , CM000670.1:g.27645401G>C	GRCh37
NC_000008.9:g.27701320G>C	NCBI36
NG_008117.1:g.18344G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-1G>C MANE Select	ENSP00000306999.8:n.1014-1G>C
ENST00000305188.12:c.1014-1G>C	ENSP00000306999.8:n.1014-1G>C
ENST00000518262.5:c.128-1G>C
ENST00000522378.5:c.862-1G>C	ENSP00000428928.1:n.862-1G>C
NM_001017420.2:c.1014-1G>C	NP_001017420.1:n.1014-1G>C
XM_011544421.1:c.1014-1G>C	XP_011542723.1:n.1014-1G>C
XM_011544422.1:c.1014-1G>C	XP_011542724.1:n.1014-1G>C
XR_949378.1:n.1098-1G>C
XR_949379.1:n.1098-1G>C
XM_011544421.2:c.1014-1G>C	XP_011542723.1:n.1014-1G>C
XM_011544422.2:c.1014-1G>C	XP_011542724.1:n.1014-1G>C
XR_949378.3:n.1098-1G>C
NM_001017420.3:c.1014-1G>C MANE Select	NP_001017420.1:n.1014-1G>C