Canonical Allele Identifier: CA2585785580

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352682-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352686_45352687del , CM000681.2:g.45352686_45352687del	GRCh38
NC_000019.9:g.45855944_45855945del , CM000681.1:g.45855944_45855945del	GRCh37
NC_000019.8:g.50547784_50547785del	NCBI36
NG_007067.2:g.22904_22905del , LRG_461:g.22904_22905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1903-35_1903-34del	ENSP00000375808.4:n.1903-35_1903-34del
ENST00000682414.1:c.1903-35_1903-34del	ENSP00000507019.1:n.1903-35_1903-34del
ENST00000682508.1:n.1932-35_1932-34del
ENST00000684218.1:c.*1161-35_*1161-34del	ENSP00000507804.1:n.*1161-35_*1161-34del
ENST00000684264.1:n.1459-35_1459-34del
ENST00000684407.1:c.1780-35_1780-34del	ENSP00000507775.1:n.1780-35_1780-34del
ENST00000684458.1:c.*389-35_*389-34del	ENSP00000508260.1:n.*389-35_*389-34del
ENST00000684468.1:n.1615-35_1615-34del
ENST00000391945.10:c.1903-35_1903-34del MANE Select	ENSP00000375809.4:n.1903-35_1903-34del
ENST00000646507.1:n.2000-35_2000-34del
ENST00000391941.6:c.1831-35_1831-34del	ENSP00000375805.2:n.1831-35_1831-34del
ENST00000391942.6:n.1074-35_1074-34del
ENST00000391944.7:c.1669-35_1669-34del	ENSP00000375808.3:n.1669-35_1669-34del
ENST00000391945.8:c.1903-35_1903-34del	ENSP00000375809.3:n.1903-35_1903-34del
ENST00000588652.5:n.1991-35_1991-34del
NM_000400.3:c.1903-35_1903-34del , LRG_461t1:c.1903-35_1903-34del	NP_000391.1:n.1903-35_1903-34del
XM_011526611.1:c.1825-35_1825-34del	XP_011524913.1:n.1825-35_1825-34del
XM_011526611.2:c.1825-35_1825-34del	XP_011524913.1:n.1825-35_1825-34del
XM_017026467.1:c.1780-35_1780-34del	XP_016881956.1:n.1780-35_1780-34del
XR_001753633.2:n.1950-35_1950-34del
XR_001753634.2:n.1886-35_1886-34del
NM_000400.4:c.1903-35_1903-34del MANE Select	NP_000391.1:n.1903-35_1903-34del