Canonical Allele Identifier: CA2585785514

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352406-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352410_45352411del , CM000681.2:g.45352410_45352411del	GRCh38
NC_000019.9:g.45855668_45855669del , CM000681.1:g.45855668_45855669del	GRCh37
NC_000019.8:g.50547508_50547509del	NCBI36
NG_007067.2:g.23180_23181del , LRG_461:g.23180_23181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-56_2047-55del	ENSP00000375808.4:n.2047-56_2047-55del
ENST00000682414.1:c.2047-56_2047-55del	ENSP00000507019.1:n.2047-56_2047-55del
ENST00000682508.1:n.2076-56_2076-55del
ENST00000684218.1:c.*1305-56_*1305-55del	ENSP00000507804.1:n.*1305-56_*1305-55del
ENST00000684264.1:n.1603-56_1603-55del
ENST00000684407.1:c.1924-56_1924-55del	ENSP00000507775.1:n.1924-56_1924-55del
ENST00000684458.1:c.*533-56_*533-55del	ENSP00000508260.1:n.*533-56_*533-55del
ENST00000684468.1:n.1759-56_1759-55del
ENST00000391945.10:c.2047-56_2047-55del MANE Select	ENSP00000375809.4:n.2047-56_2047-55del
ENST00000646507.1:n.2144-56_2144-55del
ENST00000391941.6:c.1975-56_1975-55del	ENSP00000375805.2:n.1975-56_1975-55del
ENST00000391942.6:n.1218-56_1218-55del
ENST00000391944.7:c.1813-56_1813-55del	ENSP00000375808.3:n.1813-56_1813-55del
ENST00000391945.8:c.2047-56_2047-55del	ENSP00000375809.3:n.2047-56_2047-55del
ENST00000588652.5:n.2135-56_2135-55del
NM_000400.3:c.2047-56_2047-55del , LRG_461t1:c.2047-56_2047-55del	NP_000391.1:n.2047-56_2047-55del
XM_011526611.1:c.1969-56_1969-55del	XP_011524913.1:n.1969-56_1969-55del
XM_011526611.2:c.1969-56_1969-55del	XP_011524913.1:n.1969-56_1969-55del
XM_017026467.1:c.1924-56_1924-55del	XP_016881956.1:n.1924-56_1924-55del
XR_001753633.2:n.2094-56_2094-55del
XR_001753634.2:n.2030-56_2030-55del
NM_000400.4:c.2047-56_2047-55del MANE Select	NP_000391.1:n.2047-56_2047-55del