Canonical Allele Identifier: CA882717063

Gene: ERCC2

Linked Data

• dbSNP Id: rs1329755268
• gnomAD v3: 19-45353678-GAC-G
• gnomAD v4: 19-45353678-GAC-G
• MyVariant Identifiers: chr19:g.45856937_45856938del (hg19) ; chr19:g.45353679_45353680del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353680_45353681del , CM000681.2:g.45353680_45353681del	GRCh38
NC_000019.9:g.45856938_45856939del , CM000681.1:g.45856938_45856939del	GRCh37
NC_000019.8:g.50548778_50548779del	NCBI36
NG_007067.2:g.21908_21909del , LRG_461:g.21908_21909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-346_1666-345del	ENSP00000375808.4:n.1666-346_1666-345del
ENST00000682414.1:c.1666-346_1666-345del	ENSP00000507019.1:n.1666-346_1666-345del
ENST00000682508.1:n.1695-346_1695-345del
ENST00000684218.1:c.*924-346_*924-345del	ENSP00000507804.1:n.*924-346_*924-345del
ENST00000684264.1:n.1222-346_1222-345del
ENST00000684407.1:c.1543-346_1543-345del	ENSP00000507775.1:n.1543-346_1543-345del
ENST00000684458.1:c.*152-346_*152-345del	ENSP00000508260.1:n.*152-346_*152-345del
ENST00000684468.1:n.1378-346_1378-345del
ENST00000391945.10:c.1666-346_1666-345del MANE Select	ENSP00000375809.4:n.1666-346_1666-345del
ENST00000587376.6:c.725-346_725-345del
ENST00000646507.1:n.1763-346_1763-345del
ENST00000391941.6:c.1594-346_1594-345del	ENSP00000375805.2:n.1594-346_1594-345del
ENST00000391942.6:n.837-346_837-345del
ENST00000391944.7:c.1432-346_1432-345del	ENSP00000375808.3:n.1432-346_1432-345del
ENST00000391945.8:c.1666-346_1666-345del	ENSP00000375809.3:n.1666-346_1666-345del
ENST00000587376.5:c.725-346_725-345del
ENST00000588652.5:n.1754-346_1754-345del
NM_000400.3:c.1666-346_1666-345del , LRG_461t1:c.1666-346_1666-345del	NP_000391.1:n.1666-346_1666-345del
XM_011526611.1:c.1588-346_1588-345del	XP_011524913.1:n.1588-346_1588-345del
XR_935763.1:n.1649-346_1649-345del
XM_011526611.2:c.1588-346_1588-345del	XP_011524913.1:n.1588-346_1588-345del
XM_017026467.1:c.1543-346_1543-345del	XP_016881956.1:n.1543-346_1543-345del
XR_001753633.2:n.1713-346_1713-345del
XR_001753634.2:n.1649-346_1649-345del
NM_000400.4:c.1666-346_1666-345del MANE Select	NP_000391.1:n.1666-346_1666-345del