Canonical Allele Identifier: CA2585785986

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45353441-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353441_45353442insA , CM000681.2:g.45353441_45353442insA	GRCh38
NC_000019.9:g.45856699_45856700insA , CM000681.1:g.45856699_45856700insA	GRCh37
NC_000019.8:g.50548539_50548540insA	NCBI36
NG_007067.2:g.22146_22147insT , LRG_461:g.22146_22147insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-108_1666-107insT	ENSP00000375808.4:n.1666-108_1666-107insT
ENST00000682414.1:c.1666-108_1666-107insT	ENSP00000507019.1:n.1666-108_1666-107insT
ENST00000682508.1:n.1695-108_1695-107insT
ENST00000684218.1:c.*924-108_*924-107insT	ENSP00000507804.1:n.*924-108_*924-107insT
ENST00000684264.1:n.1222-108_1222-107insT
ENST00000684407.1:c.1543-108_1543-107insT	ENSP00000507775.1:n.1543-108_1543-107insT
ENST00000684458.1:c.*152-108_*152-107insT	ENSP00000508260.1:n.*152-108_*152-107insT
ENST00000684468.1:n.1378-108_1378-107insT
ENST00000391945.10:c.1666-108_1666-107insT MANE Select	ENSP00000375809.4:n.1666-108_1666-107insT
ENST00000587376.6:c.725-108_725-107insT
ENST00000646507.1:n.1763-108_1763-107insT
ENST00000391941.6:c.1594-108_1594-107insT	ENSP00000375805.2:n.1594-108_1594-107insT
ENST00000391942.6:n.837-108_837-107insT
ENST00000391944.7:c.1432-108_1432-107insT	ENSP00000375808.3:n.1432-108_1432-107insT
ENST00000391945.8:c.1666-108_1666-107insT	ENSP00000375809.3:n.1666-108_1666-107insT
ENST00000587376.5:c.725-108_725-107insT
ENST00000588652.5:n.1754-108_1754-107insT
NM_000400.3:c.1666-108_1666-107insT , LRG_461t1:c.1666-108_1666-107insT	NP_000391.1:n.1666-108_1666-107insT
XM_011526611.1:c.1588-108_1588-107insT	XP_011524913.1:n.1588-108_1588-107insT
XR_935763.1:n.1649-108_1649-107insT
XM_011526611.2:c.1588-108_1588-107insT	XP_011524913.1:n.1588-108_1588-107insT
XM_017026467.1:c.1543-108_1543-107insT	XP_016881956.1:n.1543-108_1543-107insT
XR_001753633.2:n.1713-108_1713-107insT
XR_001753634.2:n.1649-108_1649-107insT
NM_000400.4:c.1666-108_1666-107insT MANE Select	NP_000391.1:n.1666-108_1666-107insT