Canonical Allele Identifier: CA633340683

Gene: ERCC2

Linked Data

• dbSNP Id: rs1341508269
• gnomAD v2: 19-45856636-CCA-C
• gnomAD v4: 19-45353378-CCA-C
• MyVariant Identifiers: chr19:g.45856637_45856638del (hg19) ; chr19:g.45353379_45353380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353379_45353380del , CM000681.2:g.45353379_45353380del	GRCh38
NC_000019.9:g.45856637_45856638del , CM000681.1:g.45856637_45856638del	GRCh37
NC_000019.8:g.50548477_50548478del	NCBI36
NG_007067.2:g.22208_22209del , LRG_461:g.22208_22209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-46_1666-45del	ENSP00000375808.4:n.1666-46_1666-45del
ENST00000682414.1:c.1666-46_1666-45del	ENSP00000507019.1:n.1666-46_1666-45del
ENST00000682508.1:n.1695-46_1695-45del
ENST00000684218.1:c.*924-46_*924-45del	ENSP00000507804.1:n.*924-46_*924-45del
ENST00000684264.1:n.1222-46_1222-45del
ENST00000684407.1:c.1543-46_1543-45del	ENSP00000507775.1:n.1543-46_1543-45del
ENST00000684458.1:c.*152-46_*152-45del	ENSP00000508260.1:n.*152-46_*152-45del
ENST00000684468.1:n.1378-46_1378-45del
ENST00000391945.10:c.1666-46_1666-45del MANE Select	ENSP00000375809.4:n.1666-46_1666-45del
ENST00000587376.6:c.725-46_725-45del
ENST00000646507.1:n.1763-46_1763-45del
ENST00000391941.6:c.1594-46_1594-45del	ENSP00000375805.2:n.1594-46_1594-45del
ENST00000391942.6:n.837-46_837-45del
ENST00000391944.7:c.1432-46_1432-45del	ENSP00000375808.3:n.1432-46_1432-45del
ENST00000391945.8:c.1666-46_1666-45del	ENSP00000375809.3:n.1666-46_1666-45del
ENST00000587376.5:c.725-46_725-45del
ENST00000588652.5:n.1754-46_1754-45del
NM_000400.3:c.1666-46_1666-45del , LRG_461t1:c.1666-46_1666-45del	NP_000391.1:n.1666-46_1666-45del
XM_011526611.1:c.1588-46_1588-45del	XP_011524913.1:n.1588-46_1588-45del
XR_935763.1:n.1649-46_1649-45del
XM_011526611.2:c.1588-46_1588-45del	XP_011524913.1:n.1588-46_1588-45del
XM_017026467.1:c.1543-46_1543-45del	XP_016881956.1:n.1543-46_1543-45del
XR_001753633.2:n.1713-46_1713-45del
XR_001753634.2:n.1649-46_1649-45del
NM_000400.4:c.1666-46_1666-45del MANE Select	NP_000391.1:n.1666-46_1666-45del