Canonical Allele Identifier: CA406364283

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971887864
• gnomAD v3: 19-45353244-C-A
• gnomAD v4: 19-45353244-C-A
• MyVariant Identifiers: chr19:g.45856502C>A (hg19) ; chr19:g.45353244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353244C>A , CM000681.2:g.45353244C>A	GRCh38
NC_000019.9:g.45856502C>A , CM000681.1:g.45856502C>A	GRCh37
NC_000019.8:g.50548342C>A	NCBI36
NG_007067.2:g.22344G>T , LRG_461:g.22344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1756G>T	ENSP00000375808.4:p.Glu586Ter
ENST00000682414.1:c.1756G>T	ENSP00000507019.1:p.Glu586Ter
ENST00000682508.1:n.1785G>T
ENST00000684218.1:c.*1014G>T	ENSP00000507804.1:n.*1014G>T
ENST00000684264.1:n.1312G>T
ENST00000684407.1:c.1633G>T	ENSP00000507775.1:p.Glu545Ter
ENST00000684458.1:c.*242G>T	ENSP00000508260.1:n.*242G>T
ENST00000684468.1:n.1468G>T
ENST00000391945.10:c.1756G>T MANE Select	ENSP00000375809.4:p.Glu586Ter
ENST00000587376.6:c.815G>T
ENST00000646507.1:n.1853G>T
ENST00000391941.6:c.1684G>T	ENSP00000375805.2:p.Glu562Ter
ENST00000391942.6:n.927G>T
ENST00000391944.7:c.1522G>T	ENSP00000375808.3:p.Glu508Ter
ENST00000391945.8:c.1756G>T	ENSP00000375809.3:p.Glu586Ter
ENST00000587376.5:c.815G>T
ENST00000588652.5:n.1844G>T
NM_000400.3:c.1756G>T , LRG_461t1:c.1756G>T	NP_000391.1:p.Glu586Ter
XM_011526611.1:c.1678G>T	XP_011524913.1:p.Glu560Ter
XR_935763.1:n.1739G>T
XM_011526611.2:c.1678G>T	XP_011524913.1:p.Glu560Ter
XM_017026467.1:c.1633G>T	XP_016881956.1:p.Glu545Ter
XR_001753633.2:n.1803G>T
XR_001753634.2:n.1739G>T
NM_000400.4:c.1756G>T MANE Select	NP_000391.1:p.Glu586Ter