Canonical Allele Identifier: CA9513353

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357545T>C , CM000681.2:g.45357545T>C	GRCh38
NC_000019.9:g.45860803T>C , CM000681.1:g.45860803T>C	GRCh37
NC_000019.8:g.50552643T>C	NCBI36
NG_007067.2:g.18043A>G , LRG_461:g.18043A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1308-2A>G MANE Select	NP_000391.1:n.1308-2A>G
ENST00000391945.10:c.1308-2A>G MANE Select	ENSP00000375809.4:n.1308-2A>G
NM_000400.3:c.1308-2A>G , LRG_461t1:c.1308-2A>G	NP_000391.1:n.1308-2A>G
ENST00000391941.6:c.1236-2A>G	ENSP00000375805.2:n.1236-2A>G
ENST00000391942.6:n.479-2A>G
ENST00000391944.7:c.1074-2A>G	ENSP00000375808.3:n.1074-2A>G
ENST00000391944.8:c.1308-2A>G	ENSP00000375808.4:n.1308-2A>G
ENST00000391945.8:c.1308-2A>G	ENSP00000375809.3:n.1308-2A>G
ENST00000587376.5:c.431-2A>G
ENST00000587376.6:c.431-2A>G
ENST00000588652.5:n.1394A>G
ENST00000646507.1:n.1405-2A>G
ENST00000682414.1:c.1308-2A>G	ENSP00000507019.1:n.1308-2A>G
ENST00000682508.1:n.1337-2A>G
ENST00000684218.1:c.*566-2A>G	ENSP00000507804.1:n.*566-2A>G
ENST00000684264.1:n.864-2A>G
ENST00000684407.1:c.1185-2A>G	ENSP00000507775.1:n.1185-2A>G
ENST00000684458.1:c.1238-2A>G	ENSP00000508260.1:n.1238-2A>G
ENST00000684468.1:n.1082A>G
XM_011526611.1:c.1230-2A>G	XP_011524913.1:n.1230-2A>G
XM_011526611.2:c.1230-2A>G	XP_011524913.1:n.1230-2A>G
XM_017026467.1:c.1185-2A>G	XP_016881956.1:n.1185-2A>G
XR_001753633.2:n.1355-2A>G
XR_001753634.2:n.1355-2A>G
XR_935763.1:n.1355-2A>G