Canonical Allele Identifier: CA308966693

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1766624
• ClinVar RCV Id: RCV002371665 ; RCV003774172
• dbSNP Id: rs532267915
• gnomAD v3: 19-45364002-G-A
• gnomAD v4: 19-45364002-G-A
• MyVariant Identifiers: chr19:g.45867260G>A (hg19) ; chr19:g.45364002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364002G>A , CM000681.2:g.45364002G>A	GRCh38
NC_000019.9:g.45867260G>A , CM000681.1:g.45867260G>A	GRCh37
NC_000019.8:g.50559100G>A	NCBI36
NG_007067.2:g.11586C>T , LRG_461:g.11586C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.933C>T	ENSP00000375808.4:p.Pro311=
ENST00000682414.1:c.933C>T	ENSP00000507019.1:p.Pro311=
ENST00000682508.1:n.962C>T
ENST00000684218.1:c.*191C>T	ENSP00000507804.1:n.*191C>T
ENST00000684407.1:c.810C>T	ENSP00000507775.1:p.Pro270=
ENST00000684458.1:c.933C>T	ENSP00000508260.1:p.Pro311=
ENST00000391945.10:c.933C>T MANE Select	ENSP00000375809.4:p.Pro311=
ENST00000586131.6:c.861C>T	ENSP00000464887.1:p.Pro287=
ENST00000587376.6:c.56C>T
ENST00000646507.1:n.1030C>T
ENST00000391941.6:c.861C>T	ENSP00000375805.2:p.Pro287=
ENST00000391944.7:c.699C>T	ENSP00000375808.3:p.Pro233=
ENST00000391945.8:c.933C>T	ENSP00000375809.3:p.Pro311=
ENST00000485403.6:c.861C>T	ENSP00000431229.2:p.Pro287=
ENST00000586131.5:c.861C>T	ENSP00000464887.1:p.Pro287=
ENST00000587376.5:c.56C>T
NM_000400.3:c.933C>T , LRG_461t1:c.933C>T	NP_000391.1:p.Pro311=
NM_001130867.1:c.861C>T	NP_001124339.1:p.Pro287=
XM_011526611.1:c.855C>T	XP_011524913.1:p.Pro285=
XR_935763.1:n.980C>T
XM_011526611.2:c.855C>T	XP_011524913.1:p.Pro285=
XM_017026467.1:c.810C>T	XP_016881956.1:p.Pro270=
XR_001753633.2:n.980C>T
XR_001753634.2:n.980C>T
NM_000400.4:c.933C>T MANE Select	NP_000391.1:p.Pro311=
NM_001130867.2:c.861C>T	NP_001124339.1:p.Pro287=