Canonical Allele Identifier: CA882714830

Gene: ERCC2

Linked Data

• dbSNP Id: rs1213448321
• gnomAD v3: 19-45352057-C-CA
• gnomAD v4: 19-45352057-C-CA
• MyVariant Identifiers: chr19:g.45855315_45855316insA (hg19) ; chr19:g.45352057_45352058insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352058dup , CM000681.2:g.45352058dup	GRCh38
NC_000019.9:g.45855316dup , CM000681.1:g.45855316dup	GRCh37
NC_000019.8:g.50547156dup	NCBI36
NG_007067.2:g.23530dup , LRG_461:g.23530dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2341dup	ENSP00000375808.4:p.Trp781LeufsTer22
ENST00000682414.1:c.2190+151dup	ENSP00000507019.1:n.2190+151dup
ENST00000682508.1:n.2219+151dup
ENST00000684218.1:c.*1448+151dup	ENSP00000507804.1:n.*1448+151dup
ENST00000684264.1:n.1746+151dup
ENST00000684407.1:c.2067+151dup	ENSP00000507775.1:n.2067+151dup
ENST00000684458.1:c.*676+151dup	ENSP00000508260.1:n.*676+151dup
ENST00000684468.1:n.1902+151dup
ENST00000391945.10:c.2190+151dup MANE Select	ENSP00000375809.4:n.2190+151dup
ENST00000646507.1:n.2287+151dup
ENST00000391942.6:n.1361+151dup
ENST00000391944.7:c.1956+151dup	ENSP00000375808.3:n.1956+151dup
ENST00000391945.8:c.2190+151dup	ENSP00000375809.3:n.2190+151dup
ENST00000588652.5:n.2278+151dup
NM_000400.3:c.2190+151dup , LRG_461t1:c.2190+151dup	NP_000391.1:n.2190+151dup
XM_011526611.1:c.2112+151dup	XP_011524913.1:n.2112+151dup
XM_011526611.2:c.2112+151dup	XP_011524913.1:n.2112+151dup
XM_017026467.1:c.2067+151dup	XP_016881956.1:n.2067+151dup
XR_001753633.2:n.2237+151dup
XR_001753634.2:n.2173+151dup
NM_000400.4:c.2190+151dup MANE Select	NP_000391.1:n.2190+151dup