Canonical Allele Identifier: CA406373454

Gene: ERCC2

Linked Data

• dbSNP Id: rs2123287895
• gnomAD v4: 19-45364028-C-T
• MyVariant Identifiers: chr19:g.45867286C>T (hg19) ; chr19:g.45364028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364028C>T , CM000681.2:g.45364028C>T	GRCh38
NC_000019.9:g.45867286C>T , CM000681.1:g.45867286C>T	GRCh37
NC_000019.8:g.50559126C>T	NCBI36
NG_007067.2:g.11560G>A , LRG_461:g.11560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.907G>A	ENSP00000375808.4:p.Ala303Thr
ENST00000682414.1:c.907G>A	ENSP00000507019.1:p.Ala303Thr
ENST00000682508.1:n.936G>A
ENST00000684218.1:c.*165G>A	ENSP00000507804.1:n.*165G>A
ENST00000684407.1:c.784G>A	ENSP00000507775.1:p.Ala262Thr
ENST00000684458.1:c.907G>A	ENSP00000508260.1:p.Ala303Thr
ENST00000391945.10:c.907G>A MANE Select	ENSP00000375809.4:p.Ala303Thr
ENST00000586131.6:c.835G>A	ENSP00000464887.1:p.Ala279Thr
ENST00000587376.6:c.30G>A
ENST00000646507.1:n.1004G>A
ENST00000391941.6:c.835G>A	ENSP00000375805.2:p.Ala279Thr
ENST00000391944.7:c.673G>A	ENSP00000375808.3:p.Ala225Thr
ENST00000391945.8:c.907G>A	ENSP00000375809.3:p.Ala303Thr
ENST00000485403.6:c.835G>A	ENSP00000431229.2:p.Ala279Thr
ENST00000586131.5:c.835G>A	ENSP00000464887.1:p.Ala279Thr
ENST00000587376.5:c.30G>A
NM_000400.3:c.907G>A , LRG_461t1:c.907G>A	NP_000391.1:p.Ala303Thr
NM_001130867.1:c.835G>A	NP_001124339.1:p.Ala279Thr
XM_011526611.1:c.829G>A	XP_011524913.1:p.Ala277Thr
XR_935763.1:n.954G>A
XM_011526611.2:c.829G>A	XP_011524913.1:p.Ala277Thr
XM_017026467.1:c.784G>A	XP_016881956.1:p.Ala262Thr
XR_001753633.2:n.954G>A
XR_001753634.2:n.954G>A
NM_000400.4:c.907G>A MANE Select	NP_000391.1:p.Ala303Thr
NM_001130867.2:c.835G>A	NP_001124339.1:p.Ala279Thr