Canonical Allele Identifier: CA882717219

Gene: ERCC2

Linked Data

• dbSNP Id: rs1226786683
• gnomAD v3: 19-45353904-G-T
• gnomAD v4: 19-45353904-G-T
• MyVariant Identifiers: chr19:g.45857162G>T (hg19) ; chr19:g.45353904G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353904G>T , CM000681.2:g.45353904G>T	GRCh38
NC_000019.9:g.45857162G>T , CM000681.1:g.45857162G>T	GRCh37
NC_000019.8:g.50549002G>T	NCBI36
NG_007067.2:g.21684C>A , LRG_461:g.21684C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-570C>A	ENSP00000375808.4:n.1666-570C>A
ENST00000682414.1:c.1666-570C>A	ENSP00000507019.1:n.1666-570C>A
ENST00000682508.1:n.1695-570C>A
ENST00000684218.1:c.*924-570C>A	ENSP00000507804.1:n.*924-570C>A
ENST00000684264.1:n.1222-570C>A
ENST00000684407.1:c.1543-570C>A	ENSP00000507775.1:n.1543-570C>A
ENST00000684458.1:c.*152-570C>A	ENSP00000508260.1:n.*152-570C>A
ENST00000684468.1:n.1378-570C>A
ENST00000391945.10:c.1666-570C>A MANE Select	ENSP00000375809.4:n.1666-570C>A
ENST00000587376.6:c.725-570C>A
ENST00000646507.1:n.1763-570C>A
ENST00000391941.6:c.1594-570C>A	ENSP00000375805.2:n.1594-570C>A
ENST00000391942.6:n.837-570C>A
ENST00000391944.7:c.1432-570C>A	ENSP00000375808.3:n.1432-570C>A
ENST00000391945.8:c.1666-570C>A	ENSP00000375809.3:n.1666-570C>A
ENST00000587376.5:c.725-570C>A
ENST00000588652.5:n.1754-570C>A
NM_000400.3:c.1666-570C>A , LRG_461t1:c.1666-570C>A	NP_000391.1:n.1666-570C>A
XM_011526611.1:c.1588-570C>A	XP_011524913.1:n.1588-570C>A
XR_935763.1:n.1649-570C>A
XM_011526611.2:c.1588-570C>A	XP_011524913.1:n.1588-570C>A
XM_017026467.1:c.1543-570C>A	XP_016881956.1:n.1543-570C>A
XR_001753633.2:n.1713-570C>A
XR_001753634.2:n.1649-570C>A
NM_000400.4:c.1666-570C>A MANE Select	NP_000391.1:n.1666-570C>A