Canonical Allele Identifier: CA633480449

Gene: ERCC2

Linked Data

• dbSNP Id: rs1555775633
• gnomAD v2: 19-45856099-A-AGGGGGGTTACAAGTGTGGCT
• gnomAD v4: 19-45352841-A-AGGGGGGTTACAAGTGTGGCT
• MyVariant Identifiers: chr19:g.45856099_45856100insGGGGGGTTACAAGTGTGGCT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352844_45352863dup , CM000681.2:g.45352844_45352863dup	GRCh38
NC_000019.9:g.45856102_45856121dup , CM000681.1:g.45856102_45856121dup	GRCh37
NC_000019.8:g.50547942_50547961dup	NCBI36
NG_007067.2:g.22727_22746dup , LRG_461:g.22727_22746dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-45_1832-26dup	ENSP00000375808.4:n.1832-45_1832-26dup
ENST00000682414.1:c.1832-45_1832-26dup	ENSP00000507019.1:n.1832-45_1832-26dup
ENST00000682508.1:n.1861-45_1861-26dup
ENST00000684218.1:c.*1090-45_*1090-26dup	ENSP00000507804.1:n.*1090-45_*1090-26dup
ENST00000684264.1:n.1388-45_1388-26dup
ENST00000684407.1:c.1709-45_1709-26dup	ENSP00000507775.1:n.1709-45_1709-26dup
ENST00000684458.1:c.*318-45_*318-26dup	ENSP00000508260.1:n.*318-45_*318-26dup
ENST00000684468.1:n.1544-45_1544-26dup
ENST00000391945.10:c.1832-45_1832-26dup MANE Select	ENSP00000375809.4:n.1832-45_1832-26dup
ENST00000646507.1:n.1929-45_1929-26dup
ENST00000391941.6:c.1760-45_1760-26dup	ENSP00000375805.2:n.1760-45_1760-26dup
ENST00000391942.6:n.1003-45_1003-26dup
ENST00000391944.7:c.1598-45_1598-26dup	ENSP00000375808.3:n.1598-45_1598-26dup
ENST00000391945.8:c.1832-45_1832-26dup	ENSP00000375809.3:n.1832-45_1832-26dup
ENST00000588652.5:n.1920-45_1920-26dup
NM_000400.3:c.1832-45_1832-26dup , LRG_461t1:c.1832-45_1832-26dup	NP_000391.1:n.1832-45_1832-26dup
XM_011526611.1:c.1754-45_1754-26dup	XP_011524913.1:n.1754-45_1754-26dup
XM_011526611.2:c.1754-45_1754-26dup	XP_011524913.1:n.1754-45_1754-26dup
XM_017026467.1:c.1709-45_1709-26dup	XP_016881956.1:n.1709-45_1709-26dup
XR_001753633.2:n.1879-45_1879-26dup
XR_001753634.2:n.1815-45_1815-26dup
NM_000400.4:c.1832-45_1832-26dup MANE Select	NP_000391.1:n.1832-45_1832-26dup