Canonical Allele Identifier: CA14745202
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs3916874

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353668C>G , CM000681.2:g.45353668C>G GRCh38
NC_000019.9:g.45856926C>G , CM000681.1:g.45856926C>G GRCh37
NC_000019.8:g.50548766C>G NCBI36
NG_007067.2:g.21920G>C , LRG_461:g.21920G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.1666-334G>C MANE Select ENSP00000375809.4:p.=
ENST00000587376.6:n.725-334G>C
ENST00000646507.1:n.1763-334G>C
ENST00000391941.6:c.1594-334G>C ENSP00000375805.2:p.=
ENST00000391942.6:n.837-334G>C
ENST00000391944.7:c.1432-334G>C ENSP00000375808.3:p.=
ENST00000391945.8:c.1666-334G>C ENSP00000375809.3:p.=
ENST00000587376.5:n.725-334G>C
ENST00000588652.5:n.1754-334G>C
NM_000400.3:c.1666-334G>C , LRG_461t1:c.1666-334G>C NP_000391.1:p.=
XM_011526611.1:c.1588-334G>C XP_011524913.1:p.=
XR_935763.1:n.1649-334G>C
XM_011526611.2:c.1588-334G>C XP_011524913.1:p.=
XM_017026467.1:c.1543-334G>C XP_016881956.1:p.=
XR_001753633.2:n.1713-334G>C
XR_001753634.2:n.1649-334G>C
NM_000400.4:c.1666-334G>C MANE Select NP_000391.1:p.=