Canonical Allele Identifier: CA406373556

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3231719
• ClinVar RCV Id: RCV004518434
• MyVariant Identifiers: chr19:g.45867309G>A (hg19) ; chr19:g.45364051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364051G>A , CM000681.2:g.45364051G>A	GRCh38
NC_000019.9:g.45867309G>A , CM000681.1:g.45867309G>A	GRCh37
NC_000019.8:g.50559149G>A	NCBI36
NG_007067.2:g.11537C>T , LRG_461:g.11537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.884C>T	ENSP00000375808.4:p.Ala295Val
ENST00000682414.1:c.884C>T	ENSP00000507019.1:p.Ala295Val
ENST00000682508.1:n.913C>T
ENST00000684218.1:c.*142C>T	ENSP00000507804.1:n.*142C>T
ENST00000684407.1:c.761C>T	ENSP00000507775.1:p.Ala254Val
ENST00000684458.1:c.884C>T	ENSP00000508260.1:p.Ala295Val
ENST00000391945.10:c.884C>T MANE Select	ENSP00000375809.4:p.Ala295Val
ENST00000586131.6:c.812C>T	ENSP00000464887.1:p.Ala271Val
ENST00000587376.6:c.7C>T
ENST00000646507.1:n.981C>T
ENST00000391941.6:c.812C>T	ENSP00000375805.2:p.Ala271Val
ENST00000391944.7:c.650C>T	ENSP00000375808.3:p.Ala217Val
ENST00000391945.8:c.884C>T	ENSP00000375809.3:p.Ala295Val
ENST00000485403.6:c.812C>T	ENSP00000431229.2:p.Ala271Val
ENST00000586131.5:c.812C>T	ENSP00000464887.1:p.Ala271Val
ENST00000587376.5:c.7C>T
ENST00000591309.5:c.*142C>T	ENSP00000465207.1:n.*142C>T
NM_000400.3:c.884C>T , LRG_461t1:c.884C>T	NP_000391.1:p.Ala295Val
NM_001130867.1:c.812C>T	NP_001124339.1:p.Ala271Val
XM_011526611.1:c.806C>T	XP_011524913.1:p.Ala269Val
XR_935763.1:n.931C>T
XM_011526611.2:c.806C>T	XP_011524913.1:p.Ala269Val
XM_017026467.1:c.761C>T	XP_016881956.1:p.Ala254Val
XR_001753633.2:n.931C>T
XR_001753634.2:n.931C>T
NM_000400.4:c.884C>T MANE Select	NP_000391.1:p.Ala295Val
NM_001130867.2:c.812C>T	NP_001124339.1:p.Ala271Val