Canonical Allele Identifier: CA633340419

Gene: ERCC2

Linked Data

• dbSNP Id: rs1435338645
• gnomAD v2: 19-45855426-C-CTCAGCCTGG
• gnomAD v4: 19-45352168-C-CTCAGCCTGG
• MyVariant Identifiers: chr19:g.45855426_45855427insTCAGCCTGG (hg19) ; chr19:g.45352168_45352169insTCAGCCTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352169_45352177dup , CM000681.2:g.45352169_45352177dup	GRCh38
NC_000019.9:g.45855427_45855435dup , CM000681.1:g.45855427_45855435dup	GRCh37
NC_000019.8:g.50547267_50547275dup	NCBI36
NG_007067.2:g.23411_23419dup , LRG_461:g.23411_23419dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2222_2230dup	ENSP00000375808.4:p.Leu743_Ser744insThrAr...
ENST00000682414.1:c.2190+32_2190+40dup	ENSP00000507019.1:n.2190+32_2190+40dup
ENST00000682508.1:n.2219+32_2219+40dup
ENST00000684218.1:c.*1448+32_*1448+40dup	ENSP00000507804.1:n.*1448+32_*1448+40dup
ENST00000684264.1:n.1746+32_1746+40dup
ENST00000684407.1:c.2067+32_2067+40dup	ENSP00000507775.1:n.2067+32_2067+40dup
ENST00000684458.1:c.*676+32_*676+40dup	ENSP00000508260.1:n.*676+32_*676+40dup
ENST00000684468.1:n.1902+32_1902+40dup
ENST00000391945.10:c.2190+32_2190+40dup MANE Select	ENSP00000375809.4:n.2190+32_2190+40dup
ENST00000646507.1:n.2287+32_2287+40dup
ENST00000391942.6:n.1361+32_1361+40dup
ENST00000391944.7:c.1956+32_1956+40dup	ENSP00000375808.3:n.1956+32_1956+40dup
ENST00000391945.8:c.2190+32_2190+40dup	ENSP00000375809.3:n.2190+32_2190+40dup
ENST00000588652.5:n.2278+32_2278+40dup
NM_000400.3:c.2190+32_2190+40dup , LRG_461t1:c.2190+32_2190+40dup	NP_000391.1:n.2190+32_2190+40dup
XM_011526611.1:c.2112+32_2112+40dup	XP_011524913.1:n.2112+32_2112+40dup
XM_011526611.2:c.2112+32_2112+40dup	XP_011524913.1:n.2112+32_2112+40dup
XM_017026467.1:c.2067+32_2067+40dup	XP_016881956.1:n.2067+32_2067+40dup
XR_001753633.2:n.2237+32_2237+40dup
XR_001753634.2:n.2173+32_2173+40dup
NM_000400.4:c.2190+32_2190+40dup MANE Select	NP_000391.1:n.2190+32_2190+40dup