Canonical Allele Identifier: CA2585785689

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352909-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352913_45352915del , CM000681.2:g.45352913_45352915del	GRCh38
NC_000019.9:g.45856171_45856173del , CM000681.1:g.45856171_45856173del	GRCh37
NC_000019.8:g.50548011_50548013del	NCBI36
NG_007067.2:g.22676_22678del , LRG_461:g.22676_22678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-96_1832-94del	ENSP00000375808.4:n.1832-96_1832-94del
ENST00000682414.1:c.1832-96_1832-94del	ENSP00000507019.1:n.1832-96_1832-94del
ENST00000682508.1:n.1861-96_1861-94del
ENST00000684218.1:c.*1090-96_*1090-94del	ENSP00000507804.1:n.*1090-96_*1090-94del
ENST00000684264.1:n.1388-96_1388-94del
ENST00000684407.1:c.1709-96_1709-94del	ENSP00000507775.1:n.1709-96_1709-94del
ENST00000684458.1:c.*318-96_*318-94del	ENSP00000508260.1:n.*318-96_*318-94del
ENST00000684468.1:n.1544-96_1544-94del
ENST00000391945.10:c.1832-96_1832-94del MANE Select	ENSP00000375809.4:n.1832-96_1832-94del
ENST00000646507.1:n.1929-96_1929-94del
ENST00000391941.6:c.1760-96_1760-94del	ENSP00000375805.2:n.1760-96_1760-94del
ENST00000391942.6:n.1003-96_1003-94del
ENST00000391944.7:c.1598-96_1598-94del	ENSP00000375808.3:n.1598-96_1598-94del
ENST00000391945.8:c.1832-96_1832-94del	ENSP00000375809.3:n.1832-96_1832-94del
ENST00000588652.5:n.1920-96_1920-94del
NM_000400.3:c.1832-96_1832-94del , LRG_461t1:c.1832-96_1832-94del	NP_000391.1:n.1832-96_1832-94del
XM_011526611.1:c.1754-96_1754-94del	XP_011524913.1:n.1754-96_1754-94del
XM_011526611.2:c.1754-96_1754-94del	XP_011524913.1:n.1754-96_1754-94del
XM_017026467.1:c.1709-96_1709-94del	XP_016881956.1:n.1709-96_1709-94del
XR_001753633.2:n.1879-96_1879-94del
XR_001753634.2:n.1815-96_1815-94del
NM_000400.4:c.1832-96_1832-94del MANE Select	NP_000391.1:n.1832-96_1832-94del