Canonical Allele Identifier: CA2585785602

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352821-TGGGCAGAGGAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352825_45352837del , CM000681.2:g.45352825_45352837del	GRCh38
NC_000019.9:g.45856083_45856095del , CM000681.1:g.45856083_45856095del	GRCh37
NC_000019.8:g.50547923_50547935del	NCBI36
NG_007067.2:g.22754_22766del , LRG_461:g.22754_22766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-18_1832-6del	ENSP00000375808.4:n.1832-18_1832-6del
ENST00000682414.1:c.1832-18_1832-6del	ENSP00000507019.1:n.1832-18_1832-6del
ENST00000682508.1:n.1861-18_1861-6del
ENST00000684218.1:c.*1090-18_*1090-6del	ENSP00000507804.1:n.*1090-18_*1090-6del
ENST00000684264.1:n.1388-18_1388-6del
ENST00000684407.1:c.1709-18_1709-6del	ENSP00000507775.1:n.1709-18_1709-6del
ENST00000684458.1:c.*318-18_*318-6del	ENSP00000508260.1:n.*318-18_*318-6del
ENST00000684468.1:n.1544-18_1544-6del
ENST00000391945.10:c.1832-18_1832-6del MANE Select	ENSP00000375809.4:n.1832-18_1832-6del
ENST00000646507.1:n.1929-18_1929-6del
ENST00000391941.6:c.1760-18_1760-6del	ENSP00000375805.2:n.1760-18_1760-6del
ENST00000391942.6:n.1003-18_1003-6del
ENST00000391944.7:c.1598-18_1598-6del	ENSP00000375808.3:n.1598-18_1598-6del
ENST00000391945.8:c.1832-18_1832-6del	ENSP00000375809.3:n.1832-18_1832-6del
ENST00000588652.5:n.1920-18_1920-6del
NM_000400.3:c.1832-18_1832-6del , LRG_461t1:c.1832-18_1832-6del	NP_000391.1:n.1832-18_1832-6del
XM_011526611.1:c.1754-18_1754-6del	XP_011524913.1:n.1754-18_1754-6del
XM_011526611.2:c.1754-18_1754-6del	XP_011524913.1:n.1754-18_1754-6del
XM_017026467.1:c.1709-18_1709-6del	XP_016881956.1:n.1709-18_1709-6del
XR_001753633.2:n.1879-18_1879-6del
XR_001753634.2:n.1815-18_1815-6del
NM_000400.4:c.1832-18_1832-6del MANE Select	NP_000391.1:n.1832-18_1832-6del