Canonical Allele Identifier: CA406367298

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860626G>T (hg19) ; chr19:g.45357368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357368G>T , CM000681.2:g.45357368G>T	GRCh38
NC_000019.9:g.45860626G>T , CM000681.1:g.45860626G>T	GRCh37
NC_000019.8:g.50552466G>T	NCBI36
NG_007067.2:g.18220C>A , LRG_461:g.18220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1381C>A	ENSP00000375808.4:p.Leu461Met
ENST00000682414.1:c.1381C>A	ENSP00000507019.1:p.Leu461Met
ENST00000682508.1:n.1410C>A
ENST00000684218.1:c.*639C>A	ENSP00000507804.1:n.*639C>A
ENST00000684264.1:n.937C>A
ENST00000684407.1:c.1258C>A	ENSP00000507775.1:p.Leu420Met
ENST00000684458.1:c.1311C>A	ENSP00000508260.1:p.His437Gln
ENST00000684468.1:n.1157C>A
ENST00000391945.10:c.1381C>A MANE Select	ENSP00000375809.4:p.Leu461Met
ENST00000587376.6:c.504C>A
ENST00000646507.1:n.1478C>A
ENST00000391941.6:c.1309C>A	ENSP00000375805.2:p.Leu437Met
ENST00000391942.6:n.552C>A
ENST00000391944.7:c.1147C>A	ENSP00000375808.3:p.Leu383Met
ENST00000391945.8:c.1381C>A	ENSP00000375809.3:p.Leu461Met
ENST00000587376.5:c.504C>A
ENST00000588652.5:n.1469C>A
NM_000400.3:c.1381C>A , LRG_461t1:c.1381C>A	NP_000391.1:p.Leu461Met
XM_011526611.1:c.1303C>A	XP_011524913.1:p.Leu435Met
XR_935763.1:n.1428C>A
XM_011526611.2:c.1303C>A	XP_011524913.1:p.Leu435Met
XM_017026467.1:c.1258C>A	XP_016881956.1:p.Leu420Met
XR_001753633.2:n.1428C>A
XR_001753634.2:n.1428C>A
NM_000400.4:c.1381C>A MANE Select	NP_000391.1:p.Leu461Met