Canonical Allele Identifier: CA996296558

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971926144
• gnomAD v3: 19-45354019-C-T
• gnomAD v4: 19-45354019-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354019C>T , CM000681.2:g.45354019C>T	GRCh38
NC_000019.9:g.45857277C>T , CM000681.1:g.45857277C>T	GRCh37
NC_000019.8:g.50549117C>T	NCBI36
NG_007067.2:g.21569G>A , LRG_461:g.21569G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-685G>A	ENSP00000375808.4:n.1666-685G>A
ENST00000682414.1:c.1666-685G>A	ENSP00000507019.1:n.1666-685G>A
ENST00000682508.1:n.1695-685G>A
ENST00000684218.1:c.*924-685G>A	ENSP00000507804.1:n.*924-685G>A
ENST00000684264.1:n.1222-685G>A
ENST00000684407.1:c.1543-685G>A	ENSP00000507775.1:n.1543-685G>A
ENST00000684458.1:c.*152-685G>A	ENSP00000508260.1:n.*152-685G>A
ENST00000684468.1:n.1378-685G>A
ENST00000391945.10:c.1666-685G>A MANE Select	ENSP00000375809.4:n.1666-685G>A
ENST00000587376.6:c.725-685G>A
ENST00000646507.1:n.1763-685G>A
ENST00000391941.6:c.1594-685G>A	ENSP00000375805.2:n.1594-685G>A
ENST00000391942.6:n.837-685G>A
ENST00000391944.7:c.1432-685G>A	ENSP00000375808.3:n.1432-685G>A
ENST00000391945.8:c.1666-685G>A	ENSP00000375809.3:n.1666-685G>A
ENST00000587376.5:c.725-685G>A
ENST00000588652.5:n.1754-685G>A
NM_000400.3:c.1666-685G>A , LRG_461t1:c.1666-685G>A	NP_000391.1:n.1666-685G>A
XM_011526611.1:c.1588-685G>A	XP_011524913.1:n.1588-685G>A
XR_935763.1:n.1649-685G>A
XM_011526611.2:c.1588-685G>A	XP_011524913.1:n.1588-685G>A
XM_017026467.1:c.1543-685G>A	XP_016881956.1:n.1543-685G>A
XR_001753633.2:n.1713-685G>A
XR_001753634.2:n.1649-685G>A
NM_000400.4:c.1666-685G>A MANE Select	NP_000391.1:n.1666-685G>A