Canonical Allele Identifier: CA2585785570

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352660-G-GGAGGATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352663_45352670dup , CM000681.2:g.45352663_45352670dup	GRCh38
NC_000019.9:g.45855921_45855928dup , CM000681.1:g.45855921_45855928dup	GRCh37
NC_000019.8:g.50547761_50547768dup	NCBI36
NG_007067.2:g.22920_22927dup , LRG_461:g.22920_22927dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1903-19_1903-12dup	ENSP00000375808.4:n.1903-19_1903-12dup
ENST00000682414.1:c.1903-19_1903-12dup	ENSP00000507019.1:n.1903-19_1903-12dup
ENST00000682508.1:n.1932-19_1932-12dup
ENST00000684218.1:c.*1161-19_*1161-12dup	ENSP00000507804.1:n.*1161-19_*1161-12dup
ENST00000684264.1:n.1459-19_1459-12dup
ENST00000684407.1:c.1780-19_1780-12dup	ENSP00000507775.1:n.1780-19_1780-12dup
ENST00000684458.1:c.*389-19_*389-12dup	ENSP00000508260.1:n.*389-19_*389-12dup
ENST00000684468.1:n.1615-19_1615-12dup
ENST00000391945.10:c.1903-19_1903-12dup MANE Select	ENSP00000375809.4:n.1903-19_1903-12dup
ENST00000646507.1:n.2000-19_2000-12dup
ENST00000391941.6:c.1831-19_1831-12dup	ENSP00000375805.2:n.1831-19_1831-12dup
ENST00000391942.6:n.1074-19_1074-12dup
ENST00000391944.7:c.1669-19_1669-12dup	ENSP00000375808.3:n.1669-19_1669-12dup
ENST00000391945.8:c.1903-19_1903-12dup	ENSP00000375809.3:n.1903-19_1903-12dup
ENST00000588652.5:n.1991-19_1991-12dup
NM_000400.3:c.1903-19_1903-12dup , LRG_461t1:c.1903-19_1903-12dup	NP_000391.1:n.1903-19_1903-12dup
XM_011526611.1:c.1825-19_1825-12dup	XP_011524913.1:n.1825-19_1825-12dup
XM_011526611.2:c.1825-19_1825-12dup	XP_011524913.1:n.1825-19_1825-12dup
XM_017026467.1:c.1780-19_1780-12dup	XP_016881956.1:n.1780-19_1780-12dup
XR_001753633.2:n.1950-19_1950-12dup
XR_001753634.2:n.1886-19_1886-12dup
NM_000400.4:c.1903-19_1903-12dup MANE Select	NP_000391.1:n.1903-19_1903-12dup