Canonical Allele Identifier: CA633480462

Gene: ERCC2

Linked Data

• dbSNP Id: rs1406636571
• gnomAD v2: 19-45856206-A-AGAGGG
• gnomAD v3: 19-45352948-A-AGAGGG
• gnomAD v4: 19-45352948-A-AGAGGG
• MyVariant Identifiers: chr19:g.45856206_45856207insGAGGG (hg19) ; chr19:g.45352948_45352949insGAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352959_45352963dup , CM000681.2:g.45352959_45352963dup	GRCh38
NC_000019.9:g.45856217_45856221dup , CM000681.1:g.45856217_45856221dup	GRCh37
NC_000019.8:g.50548057_50548061dup	NCBI36
NG_007067.2:g.22635_22639dup , LRG_461:g.22635_22639dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1831+130_1832-133dup	ENSP00000375808.4:n.1831+130_1832-133dup
ENST00000682414.1:c.1831+130_1832-133dup	ENSP00000507019.1:n.1831+130_1832-133dup
ENST00000682508.1:n.1860+130_1861-133dup
ENST00000684218.1:c.*1089+130_*1090-133dup	ENSP00000507804.1:n.*1089+130_*1090-133dup
ENST00000684264.1:n.1387+130_1388-133dup
ENST00000684407.1:c.1708+130_1709-133dup	ENSP00000507775.1:n.1708+130_1709-133dup
ENST00000684458.1:c.*317+130_*318-133dup	ENSP00000508260.1:n.*317+130_*318-133dup
ENST00000684468.1:n.1543+130_1544-133dup
ENST00000391945.10:c.1831+130_1832-133dup MANE Select	ENSP00000375809.4:n.1831+130_1832-133dup
ENST00000646507.1:n.1928+130_1929-133dup
ENST00000391941.6:c.1759+130_1760-133dup	ENSP00000375805.2:n.1759+130_1760-133dup
ENST00000391942.6:n.1002+130_1003-133dup
ENST00000391944.7:c.1597+130_1598-133dup	ENSP00000375808.3:n.1597+130_1598-133dup
ENST00000391945.8:c.1831+130_1832-133dup	ENSP00000375809.3:n.1831+130_1832-133dup
ENST00000588652.5:n.1919+130_1920-133dup
NM_000400.3:c.1831+130_1832-133dup , LRG_461t1:c.1831+130_1832-133dup	NP_000391.1:n.1831+130_1832-133dup
XM_011526611.1:c.1753+130_1754-133dup	XP_011524913.1:n.1753+130_1754-133dup
XM_011526611.2:c.1753+130_1754-133dup	XP_011524913.1:n.1753+130_1754-133dup
XM_017026467.1:c.1708+130_1709-133dup	XP_016881956.1:n.1708+130_1709-133dup
XR_001753633.2:n.1878+130_1879-133dup
XR_001753634.2:n.1814+130_1815-133dup
NM_000400.4:c.1831+130_1832-133dup MANE Select	NP_000391.1:n.1831+130_1832-133dup