Canonical Allele Identifier: CA2585786024

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45353482-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353482C>A , CM000681.2:g.45353482C>A	GRCh38
NC_000019.9:g.45856740C>A , CM000681.1:g.45856740C>A	GRCh37
NC_000019.8:g.50548580C>A	NCBI36
NG_007067.2:g.22106G>T , LRG_461:g.22106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-148G>T	ENSP00000375808.4:n.1666-148G>T
ENST00000682414.1:c.1666-148G>T	ENSP00000507019.1:n.1666-148G>T
ENST00000682508.1:n.1695-148G>T
ENST00000684218.1:c.*924-148G>T	ENSP00000507804.1:n.*924-148G>T
ENST00000684264.1:n.1222-148G>T
ENST00000684407.1:c.1543-148G>T	ENSP00000507775.1:n.1543-148G>T
ENST00000684458.1:c.*152-148G>T	ENSP00000508260.1:n.*152-148G>T
ENST00000684468.1:n.1378-148G>T
ENST00000391945.10:c.1666-148G>T MANE Select	ENSP00000375809.4:n.1666-148G>T
ENST00000587376.6:c.725-148G>T
ENST00000646507.1:n.1763-148G>T
ENST00000391941.6:c.1594-148G>T	ENSP00000375805.2:n.1594-148G>T
ENST00000391942.6:n.837-148G>T
ENST00000391944.7:c.1432-148G>T	ENSP00000375808.3:n.1432-148G>T
ENST00000391945.8:c.1666-148G>T	ENSP00000375809.3:n.1666-148G>T
ENST00000587376.5:c.725-148G>T
ENST00000588652.5:n.1754-148G>T
NM_000400.3:c.1666-148G>T , LRG_461t1:c.1666-148G>T	NP_000391.1:n.1666-148G>T
XM_011526611.1:c.1588-148G>T	XP_011524913.1:n.1588-148G>T
XR_935763.1:n.1649-148G>T
XM_011526611.2:c.1588-148G>T	XP_011524913.1:n.1588-148G>T
XM_017026467.1:c.1543-148G>T	XP_016881956.1:n.1543-148G>T
XR_001753633.2:n.1713-148G>T
XR_001753634.2:n.1649-148G>T
NM_000400.4:c.1666-148G>T MANE Select	NP_000391.1:n.1666-148G>T