Canonical Allele Identifier: CA996295648

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971865249
• gnomAD v3: 19-45352903-C-CTGAG
• gnomAD v4: 19-45352903-C-CTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352905_45352908dup , CM000681.2:g.45352905_45352908dup	GRCh38
NC_000019.9:g.45856163_45856166dup , CM000681.1:g.45856163_45856166dup	GRCh37
NC_000019.8:g.50548003_50548006dup	NCBI36
NG_007067.2:g.22681_22684dup , LRG_461:g.22681_22684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-91_1832-88dup	ENSP00000375808.4:n.1832-91_1832-88dup
ENST00000682414.1:c.1832-91_1832-88dup	ENSP00000507019.1:n.1832-91_1832-88dup
ENST00000682508.1:n.1861-91_1861-88dup
ENST00000684218.1:c.*1090-91_*1090-88dup	ENSP00000507804.1:n.*1090-91_*1090-88dup
ENST00000684264.1:n.1388-91_1388-88dup
ENST00000684407.1:c.1709-91_1709-88dup	ENSP00000507775.1:n.1709-91_1709-88dup
ENST00000684458.1:c.*318-91_*318-88dup	ENSP00000508260.1:n.*318-91_*318-88dup
ENST00000684468.1:n.1544-91_1544-88dup
ENST00000391945.10:c.1832-91_1832-88dup MANE Select	ENSP00000375809.4:n.1832-91_1832-88dup
ENST00000646507.1:n.1929-91_1929-88dup
ENST00000391941.6:c.1760-91_1760-88dup	ENSP00000375805.2:n.1760-91_1760-88dup
ENST00000391942.6:n.1003-91_1003-88dup
ENST00000391944.7:c.1598-91_1598-88dup	ENSP00000375808.3:n.1598-91_1598-88dup
ENST00000391945.8:c.1832-91_1832-88dup	ENSP00000375809.3:n.1832-91_1832-88dup
ENST00000588652.5:n.1920-91_1920-88dup
NM_000400.3:c.1832-91_1832-88dup , LRG_461t1:c.1832-91_1832-88dup	NP_000391.1:n.1832-91_1832-88dup
XM_011526611.1:c.1754-91_1754-88dup	XP_011524913.1:n.1754-91_1754-88dup
XM_011526611.2:c.1754-91_1754-88dup	XP_011524913.1:n.1754-91_1754-88dup
XM_017026467.1:c.1709-91_1709-88dup	XP_016881956.1:n.1709-91_1709-88dup
XR_001753633.2:n.1879-91_1879-88dup
XR_001753634.2:n.1815-91_1815-88dup
NM_000400.4:c.1832-91_1832-88dup MANE Select	NP_000391.1:n.1832-91_1832-88dup