Canonical Allele Identifier: CA996295590

Gene: ERCC2

Linked Data

• gnomAD v3: 19-45352816-A-ACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGG
• gnomAD v4: 19-45352816-A-ACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352825_45352867dup , CM000681.2:g.45352825_45352867dup	GRCh38
NC_000019.9:g.45856083_45856125dup , CM000681.1:g.45856083_45856125dup	GRCh37
NC_000019.8:g.50547923_50547965dup	NCBI36
NG_007067.2:g.22729_22771dup , LRG_461:g.22729_22771dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-43_1832-1dup	ENSP00000375808.4:n.1832-43_1832-1dup
ENST00000682414.1:c.1832-43_1832-1dup	ENSP00000507019.1:n.1832-43_1832-1dup
ENST00000682508.1:n.1861-43_1861-1dup
ENST00000684218.1:c.*1090-43_*1090-1dup	ENSP00000507804.1:n.*1090-43_*1090-1dup
ENST00000684264.1:n.1388-43_1388-1dup
ENST00000684407.1:c.1709-43_1709-1dup	ENSP00000507775.1:n.1709-43_1709-1dup
ENST00000684458.1:c.*318-43_*318-1dup	ENSP00000508260.1:n.*318-43_*318-1dup
ENST00000684468.1:n.1544-43_1544-1dup
ENST00000391945.10:c.1832-43_1832-1dup MANE Select	ENSP00000375809.4:n.1832-43_1832-1dup
ENST00000646507.1:n.1929-43_1929-1dup
ENST00000391941.6:c.1760-43_1760-1dup	ENSP00000375805.2:n.1760-43_1760-1dup
ENST00000391942.6:n.1003-43_1003-1dup
ENST00000391944.7:c.1598-43_1598-1dup	ENSP00000375808.3:n.1598-43_1598-1dup
ENST00000391945.8:c.1832-43_1832-1dup	ENSP00000375809.3:n.1832-43_1832-1dup
ENST00000588652.5:n.1920-43_1920-1dup
NM_000400.3:c.1832-43_1832-1dup , LRG_461t1:c.1832-43_1832-1dup	NP_000391.1:n.1832-43_1832-1dup
XM_011526611.1:c.1754-43_1754-1dup	XP_011524913.1:n.1754-43_1754-1dup
XM_011526611.2:c.1754-43_1754-1dup	XP_011524913.1:n.1754-43_1754-1dup
XM_017026467.1:c.1709-43_1709-1dup	XP_016881956.1:n.1709-43_1709-1dup
XR_001753633.2:n.1879-43_1879-1dup
XR_001753634.2:n.1815-43_1815-1dup
NM_000400.4:c.1832-43_1832-1dup MANE Select	NP_000391.1:n.1832-43_1832-1dup