Canonical Allele Identifier: CA308959436

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357700C>G , CM000681.2:g.45357700C>G	GRCh38
NC_000019.9:g.45860958C>G , CM000681.1:g.45860958C>G	GRCh37
NC_000019.8:g.50552798C>G	NCBI36
NG_007067.2:g.17888G>C , LRG_461:g.17888G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1238-1G>C MANE Select	NP_000391.1:n.1238-1G>C
ENST00000391945.10:c.1238-1G>C MANE Select	ENSP00000375809.4:n.1238-1G>C
NM_000400.3:c.1238-1G>C , LRG_461t1:c.1238-1G>C	NP_000391.1:n.1238-1G>C
ENST00000391941.6:c.1166-1G>C	ENSP00000375805.2:n.1166-1G>C
ENST00000391942.6:n.409-1G>C
ENST00000391944.7:c.1004-1G>C	ENSP00000375808.3:n.1004-1G>C
ENST00000391944.8:c.1238-1G>C	ENSP00000375808.4:n.1238-1G>C
ENST00000391945.8:c.1238-1G>C	ENSP00000375809.3:n.1238-1G>C
ENST00000587376.5:c.361-1G>C
ENST00000587376.6:c.361-1G>C
ENST00000588652.5:n.1239G>C
ENST00000646507.1:n.1335-1G>C
ENST00000682414.1:c.1238-1G>C	ENSP00000507019.1:n.1238-1G>C
ENST00000682508.1:n.1267-1G>C
ENST00000684218.1:c.*496-1G>C	ENSP00000507804.1:n.*496-1G>C
ENST00000684264.1:n.793G>C
ENST00000684407.1:c.1115-1G>C	ENSP00000507775.1:n.1115-1G>C
ENST00000684458.1:c.1238-157G>C	ENSP00000508260.1:n.1238-157G>C
ENST00000684468.1:n.927G>C
XM_011526611.1:c.1160-1G>C	XP_011524913.1:n.1160-1G>C
XM_011526611.2:c.1160-1G>C	XP_011524913.1:n.1160-1G>C
XM_017026467.1:c.1115-1G>C	XP_016881956.1:n.1115-1G>C
XR_001753633.2:n.1285-1G>C
XR_001753634.2:n.1285-1G>C
XR_935763.1:n.1285-1G>C