Canonical Allele Identifier: CA2338389033

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2675051
• ClinVar RCV Id: RCV003467927 ; RCV003679214
• dbSNP Id: rs1971857332
• gnomAD v4: 19-45352776-G-GGGGACGCCAAACATGATGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352779_45352798dup , CM000681.2:g.45352779_45352798dup	GRCh38
NC_000019.9:g.45856037_45856056dup , CM000681.1:g.45856037_45856056dup	GRCh37
NC_000019.8:g.50547877_50547896dup	NCBI36
NG_007067.2:g.22792_22811dup , LRG_461:g.22792_22811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1852_1871dup	ENSP00000375808.4:p.Tyr625SerfsTer?
ENST00000682414.1:c.1852_1871dup	ENSP00000507019.1:p.Tyr625SerfsTer?
ENST00000682508.1:n.1881_1900dup
ENST00000684218.1:c.*1110_*1129dup	ENSP00000507804.1:n.*1110_*1129dup
ENST00000684264.1:n.1408_1427dup
ENST00000684407.1:c.1729_1748dup	ENSP00000507775.1:p.Tyr584SerfsTer?
ENST00000684458.1:c.*338_*357dup	ENSP00000508260.1:n.*338_*357dup
ENST00000684468.1:n.1564_1583dup
ENST00000391945.10:c.1852_1871dup MANE Select	ENSP00000375809.4:p.Tyr625SerfsTer?
ENST00000646507.1:n.1949_1968dup
ENST00000391941.6:c.1780_1799dup	ENSP00000375805.2:p.Tyr601SerfsTer?
ENST00000391942.6:n.1023_1042dup
ENST00000391944.7:c.1618_1637dup	ENSP00000375808.3:p.Tyr547SerfsTer?
ENST00000391945.8:c.1852_1871dup	ENSP00000375809.3:p.Tyr625SerfsTer?
ENST00000588652.5:n.1940_1959dup
NM_000400.3:c.1852_1871dup , LRG_461t1:c.1852_1871dup	NP_000391.1:p.Tyr625SerfsTer?
XM_011526611.1:c.1774_1793dup	XP_011524913.1:p.Tyr599SerfsTer?
XM_011526611.2:c.1774_1793dup	XP_011524913.1:p.Tyr599SerfsTer?
XM_017026467.1:c.1729_1748dup	XP_016881956.1:p.Tyr584SerfsTer?
XR_001753633.2:n.1899_1918dup
XR_001753634.2:n.1835_1854dup
NM_000400.4:c.1852_1871dup MANE Select	NP_000391.1:p.Tyr625SerfsTer?