Canonical Allele Identifier: CA882715642

Gene: ERCC2

Linked Data

• dbSNP Id: rs1203776049
• gnomAD v3: 19-45352674-T-TGGGGAGGTG
• gnomAD v4: 19-45352674-T-TGGGGAGGTG
• MyVariant Identifiers: chr19:g.45855932_45855933insGGGGAGGTG (hg19) ; chr19:g.45352674_45352675insGGGGAGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352681_45352689dup , CM000681.2:g.45352681_45352689dup	GRCh38
NC_000019.9:g.45855939_45855947dup , CM000681.1:g.45855939_45855947dup	GRCh37
NC_000019.8:g.50547779_50547787dup	NCBI36
NG_007067.2:g.22905_22913dup , LRG_461:g.22905_22913dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1903-34_1903-26dup	ENSP00000375808.4:n.1903-34_1903-26dup
ENST00000682414.1:c.1903-34_1903-26dup	ENSP00000507019.1:n.1903-34_1903-26dup
ENST00000682508.1:n.1932-34_1932-26dup
ENST00000684218.1:c.*1161-34_*1161-26dup	ENSP00000507804.1:n.*1161-34_*1161-26dup
ENST00000684264.1:n.1459-34_1459-26dup
ENST00000684407.1:c.1780-34_1780-26dup	ENSP00000507775.1:n.1780-34_1780-26dup
ENST00000684458.1:c.*389-34_*389-26dup	ENSP00000508260.1:n.*389-34_*389-26dup
ENST00000684468.1:n.1615-34_1615-26dup
ENST00000391945.10:c.1903-34_1903-26dup MANE Select	ENSP00000375809.4:n.1903-34_1903-26dup
ENST00000646507.1:n.2000-34_2000-26dup
ENST00000391941.6:c.1831-34_1831-26dup	ENSP00000375805.2:n.1831-34_1831-26dup
ENST00000391942.6:n.1074-34_1074-26dup
ENST00000391944.7:c.1669-34_1669-26dup	ENSP00000375808.3:n.1669-34_1669-26dup
ENST00000391945.8:c.1903-34_1903-26dup	ENSP00000375809.3:n.1903-34_1903-26dup
ENST00000588652.5:n.1991-34_1991-26dup
NM_000400.3:c.1903-34_1903-26dup , LRG_461t1:c.1903-34_1903-26dup	NP_000391.1:n.1903-34_1903-26dup
XM_011526611.1:c.1825-34_1825-26dup	XP_011524913.1:n.1825-34_1825-26dup
XM_011526611.2:c.1825-34_1825-26dup	XP_011524913.1:n.1825-34_1825-26dup
XM_017026467.1:c.1780-34_1780-26dup	XP_016881956.1:n.1780-34_1780-26dup
XR_001753633.2:n.1950-34_1950-26dup
XR_001753634.2:n.1886-34_1886-26dup
NM_000400.4:c.1903-34_1903-26dup MANE Select	NP_000391.1:n.1903-34_1903-26dup