Canonical Allele Identifier: CA9513344

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357512C>T , CM000681.2:g.45357512C>T	GRCh38
NC_000019.9:g.45860770C>T , CM000681.1:g.45860770C>T	GRCh37
NC_000019.8:g.50552610C>T	NCBI36
NG_007067.2:g.18076G>A , LRG_461:g.18076G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1339G>A MANE Select	NP_000391.1:p.Val447Ile
ENST00000391945.10:c.1339G>A MANE Select	ENSP00000375809.4:p.Val447Ile
NM_000400.3:c.1339G>A , LRG_461t1:c.1339G>A	NP_000391.1:p.Val447Ile
ENST00000391941.6:c.1267G>A	ENSP00000375805.2:p.Val423Ile
ENST00000391942.6:n.510G>A
ENST00000391944.7:c.1105G>A	ENSP00000375808.3:p.Val369Ile
ENST00000391944.8:c.1339G>A	ENSP00000375808.4:p.Val447Ile
ENST00000391945.8:c.1339G>A	ENSP00000375809.3:p.Val447Ile
ENST00000587376.5:c.462G>A
ENST00000587376.6:c.462G>A
ENST00000588652.5:n.1427G>A
ENST00000646507.1:n.1436G>A
ENST00000682414.1:c.1339G>A	ENSP00000507019.1:p.Val447Ile
ENST00000682508.1:n.1368G>A
ENST00000684218.1:c.*597G>A	ENSP00000507804.1:n.*597G>A
ENST00000684264.1:n.895G>A
ENST00000684407.1:c.1216G>A	ENSP00000507775.1:p.Val406Ile
ENST00000684458.1:c.1269G>A	ENSP00000508260.1:p.Pro423=
ENST00000684468.1:n.1115G>A
XM_011526611.1:c.1261G>A	XP_011524913.1:p.Val421Ile
XM_011526611.2:c.1261G>A	XP_011524913.1:p.Val421Ile
XM_017026467.1:c.1216G>A	XP_016881956.1:p.Val406Ile
XR_001753633.2:n.1386G>A
XR_001753634.2:n.1386G>A
XR_935763.1:n.1386G>A