Canonical Allele Identifier: CA9513034

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1540374
• ClinVar RCV Id: RCV002155038
• dbSNP Id: rs754335532
• ExAC: 19:45856089 A / AGAGGGGGC
• gnomAD v2: 19-45856089-A-AGAGGGGGC
• gnomAD v3: 19-45352831-A-AGAGGGGGC
• gnomAD v4: 19-45352831-A-AGAGGGGGC
• MyVariant Identifiers: chr19:g.45856097_45856098insGAGGGGGC (hg19) ; chr19:g.45856089_45856090insGAGGGGGC (hg19) ; chr19:g.45352831_45352832insGAGGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352839_45352846dup , CM000681.2:g.45352839_45352846dup	GRCh38
NC_000019.9:g.45856097_45856104dup , CM000681.1:g.45856097_45856104dup	GRCh37
NC_000019.8:g.50547937_50547944dup	NCBI36
NG_007067.2:g.22749_22756dup , LRG_461:g.22749_22756dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-23_1832-16dup	ENSP00000375808.4:n.1832-23_1832-16dup
ENST00000682414.1:c.1832-23_1832-16dup	ENSP00000507019.1:n.1832-23_1832-16dup
ENST00000682508.1:n.1861-23_1861-16dup
ENST00000684218.1:c.*1090-23_*1090-16dup	ENSP00000507804.1:n.*1090-23_*1090-16dup
ENST00000684264.1:n.1388-23_1388-16dup
ENST00000684407.1:c.1709-23_1709-16dup	ENSP00000507775.1:n.1709-23_1709-16dup
ENST00000684458.1:c.*318-23_*318-16dup	ENSP00000508260.1:n.*318-23_*318-16dup
ENST00000684468.1:n.1544-23_1544-16dup
ENST00000391945.10:c.1832-23_1832-16dup MANE Select	ENSP00000375809.4:n.1832-23_1832-16dup
ENST00000646507.1:n.1929-23_1929-16dup
ENST00000391941.6:c.1760-23_1760-16dup	ENSP00000375805.2:n.1760-23_1760-16dup
ENST00000391942.6:n.1003-23_1003-16dup
ENST00000391944.7:c.1598-23_1598-16dup	ENSP00000375808.3:n.1598-23_1598-16dup
ENST00000391945.8:c.1832-23_1832-16dup	ENSP00000375809.3:n.1832-23_1832-16dup
ENST00000588652.5:n.1920-23_1920-16dup
NM_000400.3:c.1832-23_1832-16dup , LRG_461t1:c.1832-23_1832-16dup	NP_000391.1:n.1832-23_1832-16dup
XM_011526611.1:c.1754-23_1754-16dup	XP_011524913.1:n.1754-23_1754-16dup
XM_011526611.2:c.1754-23_1754-16dup	XP_011524913.1:n.1754-23_1754-16dup
XM_017026467.1:c.1709-23_1709-16dup	XP_016881956.1:n.1709-23_1709-16dup
XR_001753633.2:n.1879-23_1879-16dup
XR_001753634.2:n.1815-23_1815-16dup
NM_000400.4:c.1832-23_1832-16dup MANE Select	NP_000391.1:n.1832-23_1832-16dup