Canonical Allele Identifier: CA2686705761

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27780285-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780285T>C , CM000670.2:g.27780285T>C	GRCh38
NC_000008.10:g.27637802T>C , CM000670.1:g.27637802T>C	GRCh37
NC_000008.9:g.27693721T>C	NCBI36
NG_008117.1:g.10745T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.955+18T>C MANE Select	ENSP00000306999.8:n.955+18T>C
ENST00000305188.12:c.955+18T>C	ENSP00000306999.8:n.955+18T>C
ENST00000518262.5:c.69+18T>C
ENST00000522378.5:c.861+3116T>C	ENSP00000428928.1:n.861+3116T>C
NM_001017420.2:c.955+18T>C	NP_001017420.1:n.955+18T>C
XM_011544421.1:c.955+18T>C	XP_011542723.1:n.955+18T>C
XM_011544422.1:c.955+18T>C	XP_011542724.1:n.955+18T>C
XR_949378.1:n.1039+18T>C
XR_949379.1:n.1039+18T>C
XM_011544421.2:c.955+18T>C	XP_011542723.1:n.955+18T>C
XM_011544422.2:c.955+18T>C	XP_011542724.1:n.955+18T>C
XR_949378.3:n.1039+18T>C
NM_001017420.3:c.955+18T>C MANE Select	NP_001017420.1:n.955+18T>C