Canonical Allele Identifier: CA2585785517

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352410-T-TCCACCCTGCAACCCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352416_45352432dup , CM000681.2:g.45352416_45352432dup	GRCh38
NC_000019.9:g.45855674_45855690dup , CM000681.1:g.45855674_45855690dup	GRCh37
NC_000019.8:g.50547514_50547530dup	NCBI36
NG_007067.2:g.23161_23177dup , LRG_461:g.23161_23177dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2047-75_2047-59dup	ENSP00000375808.4:n.2047-75_2047-59dup
ENST00000682414.1:c.2047-75_2047-59dup	ENSP00000507019.1:n.2047-75_2047-59dup
ENST00000682508.1:n.2076-75_2076-59dup
ENST00000684218.1:c.*1305-75_*1305-59dup	ENSP00000507804.1:n.*1305-75_*1305-59dup
ENST00000684264.1:n.1603-75_1603-59dup
ENST00000684407.1:c.1924-75_1924-59dup	ENSP00000507775.1:n.1924-75_1924-59dup
ENST00000684458.1:c.*533-75_*533-59dup	ENSP00000508260.1:n.*533-75_*533-59dup
ENST00000684468.1:n.1759-75_1759-59dup
ENST00000391945.10:c.2047-75_2047-59dup MANE Select	ENSP00000375809.4:n.2047-75_2047-59dup
ENST00000646507.1:n.2144-75_2144-59dup
ENST00000391941.6:c.1975-75_1975-59dup	ENSP00000375805.2:n.1975-75_1975-59dup
ENST00000391942.6:n.1218-75_1218-59dup
ENST00000391944.7:c.1813-75_1813-59dup	ENSP00000375808.3:n.1813-75_1813-59dup
ENST00000391945.8:c.2047-75_2047-59dup	ENSP00000375809.3:n.2047-75_2047-59dup
ENST00000588652.5:n.2135-75_2135-59dup
NM_000400.3:c.2047-75_2047-59dup , LRG_461t1:c.2047-75_2047-59dup	NP_000391.1:n.2047-75_2047-59dup
XM_011526611.1:c.1969-75_1969-59dup	XP_011524913.1:n.1969-75_1969-59dup
XM_011526611.2:c.1969-75_1969-59dup	XP_011524913.1:n.1969-75_1969-59dup
XM_017026467.1:c.1924-75_1924-59dup	XP_016881956.1:n.1924-75_1924-59dup
XR_001753633.2:n.2094-75_2094-59dup
XR_001753634.2:n.2030-75_2030-59dup
NM_000400.4:c.2047-75_2047-59dup MANE Select	NP_000391.1:n.2047-75_2047-59dup