Canonical Allele Identifier: CA2338391659

Gene: ERCC2

Linked Data

• dbSNP Id: rs555641876
• gnomAD v4: 19-45357216-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357216G>C , CM000681.2:g.45357216G>C	GRCh38
NC_000019.9:g.45860474G>C , CM000681.1:g.45860474G>C	GRCh37
NC_000019.8:g.50552314G>C	NCBI36
NG_007067.2:g.18372C>G , LRG_461:g.18372C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1479+54C>G	ENSP00000375808.4:n.1479+54C>G
ENST00000682414.1:c.1479+54C>G	ENSP00000507019.1:n.1479+54C>G
ENST00000682508.1:n.1508+54C>G
ENST00000684218.1:c.*737+54C>G	ENSP00000507804.1:n.*737+54C>G
ENST00000684264.1:n.1035+54C>G
ENST00000684407.1:c.1356+54C>G	ENSP00000507775.1:n.1356+54C>G
ENST00000684458.1:c.*29+54C>G	ENSP00000508260.1:n.*29+54C>G
ENST00000684468.1:n.1255+54C>G
ENST00000391945.10:c.1479+54C>G MANE Select	ENSP00000375809.4:n.1479+54C>G
ENST00000587376.6:c.602+54C>G
ENST00000646507.1:n.1576+54C>G
ENST00000391941.6:c.1407+54C>G	ENSP00000375805.2:n.1407+54C>G
ENST00000391942.6:n.650+54C>G
ENST00000391944.7:c.1245+54C>G	ENSP00000375808.3:n.1245+54C>G
ENST00000391945.8:c.1479+54C>G	ENSP00000375809.3:n.1479+54C>G
ENST00000587376.5:c.602+54C>G
ENST00000588652.5:n.1567+54C>G
NM_000400.3:c.1479+54C>G , LRG_461t1:c.1479+54C>G	NP_000391.1:n.1479+54C>G
XM_011526611.1:c.1401+54C>G	XP_011524913.1:n.1401+54C>G
XR_935763.1:n.1526+54C>G
XM_011526611.2:c.1401+54C>G	XP_011524913.1:n.1401+54C>G
XM_017026467.1:c.1356+54C>G	XP_016881956.1:n.1356+54C>G
XR_001753633.2:n.1526+54C>G
XR_001753634.2:n.1526+54C>G
NM_000400.4:c.1479+54C>G MANE Select	NP_000391.1:n.1479+54C>G