Canonical Allele Identifier: CA406375938

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2582234
• ClinVar RCV Id: RCV003332935
• dbSNP Id: rs2123296002
• MyVariant Identifiers: chr19:g.45868338G>A (hg19) ; chr19:g.45365080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45365080G>A , CM000681.2:g.45365080G>A	GRCh38
NC_000019.9:g.45868338G>A , CM000681.1:g.45868338G>A	GRCh37
NC_000019.8:g.50560178G>A	NCBI36
NG_007067.2:g.10508C>T , LRG_461:g.10508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.439C>T	ENSP00000375808.4:p.Gln147Ter
ENST00000682414.1:c.439C>T	ENSP00000507019.1:p.Gln147Ter
ENST00000682508.1:n.468C>T
ENST00000684218.1:c.439C>T	ENSP00000507804.1:p.Gln147Ter
ENST00000684407.1:c.316C>T	ENSP00000507775.1:p.Gln106Ter
ENST00000684458.1:c.439C>T	ENSP00000508260.1:p.Gln147Ter
ENST00000391945.10:c.439C>T MANE Select	ENSP00000375809.4:p.Gln147Ter
ENST00000586131.6:c.367C>T	ENSP00000464887.1:p.Gln123Ter
ENST00000646507.1:n.536C>T
ENST00000391941.6:c.367C>T	ENSP00000375805.2:p.Gln123Ter
ENST00000391944.7:c.361-533C>T	ENSP00000375808.3:n.361-533C>T
ENST00000391945.8:c.439C>T	ENSP00000375809.3:p.Gln147Ter
ENST00000485403.6:c.367C>T	ENSP00000431229.2:p.Gln123Ter
ENST00000586131.5:c.367C>T	ENSP00000464887.1:p.Gln123Ter
ENST00000586441.1:n.431C>T
ENST00000586737.5:n.356-749C>T
ENST00000586856.1:c.289C>T	ENSP00000466998.1:p.Gln97Ter
ENST00000591309.5:c.361-749C>T	ENSP00000465207.1:n.361-749C>T
NM_000400.3:c.439C>T , LRG_461t1:c.439C>T	NP_000391.1:p.Gln147Ter
NM_001130867.1:c.367C>T	NP_001124339.1:p.Gln123Ter
XM_011526611.1:c.361C>T	XP_011524913.1:p.Gln121Ter
XR_935763.1:n.486C>T
XM_011526611.2:c.361C>T	XP_011524913.1:p.Gln121Ter
XM_017026467.1:c.316C>T	XP_016881956.1:p.Gln106Ter
XR_001753633.2:n.486C>T
XR_001753634.2:n.486C>T
NM_000400.4:c.439C>T MANE Select	NP_000391.1:p.Gln147Ter
NM_001130867.2:c.367C>T	NP_001124339.1:p.Gln123Ter