Canonical Allele Identifier: CA882717043

Gene: ERCC2

Linked Data

• dbSNP Id: rs1434708047
• MyVariant Identifiers: chr19:g.45856918_45856919del (hg19) ; chr19:g.45353660_45353661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353662_45353663del , CM000681.2:g.45353662_45353663del	GRCh38
NC_000019.9:g.45856920_45856921del , CM000681.1:g.45856920_45856921del	GRCh37
NC_000019.8:g.50548760_50548761del	NCBI36
NG_007067.2:g.21927_21928del , LRG_461:g.21927_21928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-327_1666-326del	ENSP00000375808.4:n.1666-327_1666-326del
ENST00000682414.1:c.1666-327_1666-326del	ENSP00000507019.1:n.1666-327_1666-326del
ENST00000682508.1:n.1695-327_1695-326del
ENST00000684218.1:c.*924-327_*924-326del	ENSP00000507804.1:n.*924-327_*924-326del
ENST00000684264.1:n.1222-327_1222-326del
ENST00000684407.1:c.1543-327_1543-326del	ENSP00000507775.1:n.1543-327_1543-326del
ENST00000684458.1:c.*152-327_*152-326del	ENSP00000508260.1:n.*152-327_*152-326del
ENST00000684468.1:n.1378-327_1378-326del
ENST00000391945.10:c.1666-327_1666-326del MANE Select	ENSP00000375809.4:n.1666-327_1666-326del
ENST00000587376.6:c.725-327_725-326del
ENST00000646507.1:n.1763-327_1763-326del
ENST00000391941.6:c.1594-327_1594-326del	ENSP00000375805.2:n.1594-327_1594-326del
ENST00000391942.6:n.837-327_837-326del
ENST00000391944.7:c.1432-327_1432-326del	ENSP00000375808.3:n.1432-327_1432-326del
ENST00000391945.8:c.1666-327_1666-326del	ENSP00000375809.3:n.1666-327_1666-326del
ENST00000587376.5:c.725-327_725-326del
ENST00000588652.5:n.1754-327_1754-326del
NM_000400.3:c.1666-327_1666-326del , LRG_461t1:c.1666-327_1666-326del	NP_000391.1:n.1666-327_1666-326del
XM_011526611.1:c.1588-327_1588-326del	XP_011524913.1:n.1588-327_1588-326del
XR_935763.1:n.1649-327_1649-326del
XM_011526611.2:c.1588-327_1588-326del	XP_011524913.1:n.1588-327_1588-326del
XM_017026467.1:c.1543-327_1543-326del	XP_016881956.1:n.1543-327_1543-326del
XR_001753633.2:n.1713-327_1713-326del
XR_001753634.2:n.1649-327_1649-326del
NM_000400.4:c.1666-327_1666-326del MANE Select	NP_000391.1:n.1666-327_1666-326del