Canonical Allele Identifier: CA2585785632

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352867-G-GCAGAGGAGAGGGGGCGAGGGGGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352867_45352868insCAGAGGAGAGGGGGCGAGGGGGGTT , CM000681.2:g.45352867_45352868insCAGAGGAGAGGGGGCGAGGGGGGTT	GRCh38
NC_000019.9:g.45856125_45856126insCAGAGGAGAGGGGGCGAGGGGGGTT , CM000681.1:g.45856125_45856126insCAGAGGAGAGGGGGCGAGGGGGGTT	GRCh37
NC_000019.8:g.50547965_50547966insCAGAGGAGAGGGGGCGAGGGGGGTT	NCBI36
NG_007067.2:g.22720_22721insAACCCCCCTCGCCCCCTCTCCTCTG , LRG_461:g.22720_22721insAACCCCCCTCGCCCCCTCTCCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000375808.4:n.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000682414.1:c.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000507019.1:n.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000682508.1:n.1861-52_1861-51insAACCCCCCTCGCCCCCTCTCCTCTG
ENST00000684218.1:c.*1090-52_*1090-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000507804.1:n.*1090-52_*1090-51insAACCCCCCTCGCCCCCTCTCC...
ENST00000684264.1:n.1388-52_1388-51insAACCCCCCTCGCCCCCTCTCCTCTG
ENST00000684407.1:c.1709-52_1709-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000507775.1:n.1709-52_1709-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000684458.1:c.*318-52_*318-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000508260.1:n.*318-52_*318-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000684468.1:n.1544-52_1544-51insAACCCCCCTCGCCCCCTCTCCTCTG
ENST00000391945.10:c.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG MANE Select	ENSP00000375809.4:n.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000646507.1:n.1929-52_1929-51insAACCCCCCTCGCCCCCTCTCCTCTG
ENST00000391941.6:c.1760-52_1760-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000375805.2:n.1760-52_1760-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000391942.6:n.1003-52_1003-51insAACCCCCCTCGCCCCCTCTCCTCTG
ENST00000391944.7:c.1598-52_1598-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000375808.3:n.1598-52_1598-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000391945.8:c.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG	ENSP00000375809.3:n.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTC...
ENST00000588652.5:n.1920-52_1920-51insAACCCCCCTCGCCCCCTCTCCTCTG
NM_000400.3:c.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG , LRG_461t1:c.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG	NP_000391.1:n.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG
XM_011526611.1:c.1754-52_1754-51insAACCCCCCTCGCCCCCTCTCCTCTG	XP_011524913.1:n.1754-52_1754-51insAACCCCCCTCGCCCCCTCTCCTCTG
XM_011526611.2:c.1754-52_1754-51insAACCCCCCTCGCCCCCTCTCCTCTG	XP_011524913.1:n.1754-52_1754-51insAACCCCCCTCGCCCCCTCTCCTCTG
XM_017026467.1:c.1709-52_1709-51insAACCCCCCTCGCCCCCTCTCCTCTG	XP_016881956.1:n.1709-52_1709-51insAACCCCCCTCGCCCCCTCTCCTCTG
XR_001753633.2:n.1879-52_1879-51insAACCCCCCTCGCCCCCTCTCCTCTG
XR_001753634.2:n.1815-52_1815-51insAACCCCCCTCGCCCCCTCTCCTCTG
NM_000400.4:c.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG MANE Select	NP_000391.1:n.1832-52_1832-51insAACCCCCCTCGCCCCCTCTCCTCTG