Canonical Allele Identifier: CA633479913

Gene: ERCC2

Linked Data

• dbSNP Id: rs1320216739
• gnomAD v2: 19-45855612-T-TGTGGGCAGAAGCGCAGGCC
• gnomAD v4: 19-45352354-T-TGTGGGCAGAAGCGCAGGCC
• MyVariant Identifiers: chr19:g.45855612_45855613insGTGGGCAGAAGCGCAGGCC (hg19) ; chr19:g.45352354_45352355insGTGGGCAGAAGCGCAGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352355_45352373dup , CM000681.2:g.45352355_45352373dup	GRCh38
NC_000019.9:g.45855613_45855631dup , CM000681.1:g.45855613_45855631dup	GRCh37
NC_000019.8:g.50547453_50547471dup	NCBI36
NG_007067.2:g.23215_23233dup , LRG_461:g.23215_23233dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-21_2047-3dup	ENSP00000375808.4:n.2047-21_2047-3dup
ENST00000682414.1:c.2047-21_2047-3dup	ENSP00000507019.1:n.2047-21_2047-3dup
ENST00000682508.1:n.2076-21_2076-3dup
ENST00000684218.1:c.*1305-21_*1305-3dup	ENSP00000507804.1:n.*1305-21_*1305-3dup
ENST00000684264.1:n.1603-21_1603-3dup
ENST00000684407.1:c.1924-21_1924-3dup	ENSP00000507775.1:n.1924-21_1924-3dup
ENST00000684458.1:c.*533-21_*533-3dup	ENSP00000508260.1:n.*533-21_*533-3dup
ENST00000684468.1:n.1759-21_1759-3dup
ENST00000391945.10:c.2047-21_2047-3dup MANE Select	ENSP00000375809.4:n.2047-21_2047-3dup
ENST00000646507.1:n.2144-21_2144-3dup
ENST00000391941.6:c.1975-21_1975-3dup	ENSP00000375805.2:n.1975-21_1975-3dup
ENST00000391942.6:n.1218-21_1218-3dup
ENST00000391944.7:c.1813-21_1813-3dup	ENSP00000375808.3:n.1813-21_1813-3dup
ENST00000391945.8:c.2047-21_2047-3dup	ENSP00000375809.3:n.2047-21_2047-3dup
ENST00000588652.5:n.2135-21_2135-3dup
NM_000400.3:c.2047-21_2047-3dup , LRG_461t1:c.2047-21_2047-3dup	NP_000391.1:n.2047-21_2047-3dup
XM_011526611.1:c.1969-21_1969-3dup	XP_011524913.1:n.1969-21_1969-3dup
XM_011526611.2:c.1969-21_1969-3dup	XP_011524913.1:n.1969-21_1969-3dup
XM_017026467.1:c.1924-21_1924-3dup	XP_016881956.1:n.1924-21_1924-3dup
XR_001753633.2:n.2094-21_2094-3dup
XR_001753634.2:n.2030-21_2030-3dup
NM_000400.4:c.2047-21_2047-3dup MANE Select	NP_000391.1:n.2047-21_2047-3dup