Canonical Allele Identifier: CA2585785656

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352885-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352886_45352887del , CM000681.2:g.45352886_45352887del	GRCh38
NC_000019.9:g.45856144_45856145del , CM000681.1:g.45856144_45856145del	GRCh37
NC_000019.8:g.50547984_50547985del	NCBI36
NG_007067.2:g.22701_22702del , LRG_461:g.22701_22702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-71_1832-70del	ENSP00000375808.4:n.1832-71_1832-70del
ENST00000682414.1:c.1832-71_1832-70del	ENSP00000507019.1:n.1832-71_1832-70del
ENST00000682508.1:n.1861-71_1861-70del
ENST00000684218.1:c.*1090-71_*1090-70del	ENSP00000507804.1:n.*1090-71_*1090-70del
ENST00000684264.1:n.1388-71_1388-70del
ENST00000684407.1:c.1709-71_1709-70del	ENSP00000507775.1:n.1709-71_1709-70del
ENST00000684458.1:c.*318-71_*318-70del	ENSP00000508260.1:n.*318-71_*318-70del
ENST00000684468.1:n.1544-71_1544-70del
ENST00000391945.10:c.1832-71_1832-70del MANE Select	ENSP00000375809.4:n.1832-71_1832-70del
ENST00000646507.1:n.1929-71_1929-70del
ENST00000391941.6:c.1760-71_1760-70del	ENSP00000375805.2:n.1760-71_1760-70del
ENST00000391942.6:n.1003-71_1003-70del
ENST00000391944.7:c.1598-71_1598-70del	ENSP00000375808.3:n.1598-71_1598-70del
ENST00000391945.8:c.1832-71_1832-70del	ENSP00000375809.3:n.1832-71_1832-70del
ENST00000588652.5:n.1920-71_1920-70del
NM_000400.3:c.1832-71_1832-70del , LRG_461t1:c.1832-71_1832-70del	NP_000391.1:n.1832-71_1832-70del
XM_011526611.1:c.1754-71_1754-70del	XP_011524913.1:n.1754-71_1754-70del
XM_011526611.2:c.1754-71_1754-70del	XP_011524913.1:n.1754-71_1754-70del
XM_017026467.1:c.1709-71_1709-70del	XP_016881956.1:n.1709-71_1709-70del
XR_001753633.2:n.1879-71_1879-70del
XR_001753634.2:n.1815-71_1815-70del
NM_000400.4:c.1832-71_1832-70del MANE Select	NP_000391.1:n.1832-71_1832-70del