Canonical Allele Identifier: CA2585785997

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45353451-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353451A>G , CM000681.2:g.45353451A>G	GRCh38
NC_000019.9:g.45856709A>G , CM000681.1:g.45856709A>G	GRCh37
NC_000019.8:g.50548549A>G	NCBI36
NG_007067.2:g.22137T>C , LRG_461:g.22137T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-117T>C	ENSP00000375808.4:n.1666-117T>C
ENST00000682414.1:c.1666-117T>C	ENSP00000507019.1:n.1666-117T>C
ENST00000682508.1:n.1695-117T>C
ENST00000684218.1:c.*924-117T>C	ENSP00000507804.1:n.*924-117T>C
ENST00000684264.1:n.1222-117T>C
ENST00000684407.1:c.1543-117T>C	ENSP00000507775.1:n.1543-117T>C
ENST00000684458.1:c.*152-117T>C	ENSP00000508260.1:n.*152-117T>C
ENST00000684468.1:n.1378-117T>C
ENST00000391945.10:c.1666-117T>C MANE Select	ENSP00000375809.4:n.1666-117T>C
ENST00000587376.6:c.725-117T>C
ENST00000646507.1:n.1763-117T>C
ENST00000391941.6:c.1594-117T>C	ENSP00000375805.2:n.1594-117T>C
ENST00000391942.6:n.837-117T>C
ENST00000391944.7:c.1432-117T>C	ENSP00000375808.3:n.1432-117T>C
ENST00000391945.8:c.1666-117T>C	ENSP00000375809.3:n.1666-117T>C
ENST00000587376.5:c.725-117T>C
ENST00000588652.5:n.1754-117T>C
NM_000400.3:c.1666-117T>C , LRG_461t1:c.1666-117T>C	NP_000391.1:n.1666-117T>C
XM_011526611.1:c.1588-117T>C	XP_011524913.1:n.1588-117T>C
XR_935763.1:n.1649-117T>C
XM_011526611.2:c.1588-117T>C	XP_011524913.1:n.1588-117T>C
XM_017026467.1:c.1543-117T>C	XP_016881956.1:n.1543-117T>C
XR_001753633.2:n.1713-117T>C
XR_001753634.2:n.1649-117T>C
NM_000400.4:c.1666-117T>C MANE Select	NP_000391.1:n.1666-117T>C