Canonical Allele Identifier: CA406373409
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45364019C>A , CM000681.2:g.45364019C>A GRCh38
NC_000019.9:g.45867277C>A , CM000681.1:g.45867277C>A GRCh37
NC_000019.8:g.50559117C>A NCBI36
NG_007067.2:g.11569G>T , LRG_461:g.11569G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.916G>T ENSP00000375808.4:p.Ala306Ser
ENST00000682414.1:c.916G>T ENSP00000507019.1:p.Ala306Ser
ENST00000682508.1:n.945G>T
ENST00000684218.1:c.*174G>T ENSP00000507804.1:n.*174G>T
ENST00000684407.1:c.793G>T ENSP00000507775.1:p.Ala265Ser
ENST00000684458.1:c.916G>T ENSP00000508260.1:p.Ala306Ser
ENST00000391945.10:c.916G>T MANE Select ENSP00000375809.4:p.Ala306Ser
ENST00000586131.6:c.844G>T ENSP00000464887.1:p.Ala282Ser
ENST00000587376.6:c.39G>T
ENST00000646507.1:n.1013G>T
ENST00000391941.6:c.844G>T ENSP00000375805.2:p.Ala282Ser
ENST00000391944.7:c.682G>T ENSP00000375808.3:p.Ala228Ser
ENST00000391945.8:c.916G>T ENSP00000375809.3:p.Ala306Ser
ENST00000485403.6:c.844G>T ENSP00000431229.2:p.Ala282Ser
ENST00000586131.5:c.844G>T ENSP00000464887.1:p.Ala282Ser
ENST00000587376.5:c.39G>T
NM_000400.3:c.916G>T , LRG_461t1:c.916G>T NP_000391.1:p.Ala306Ser
NM_001130867.1:c.844G>T NP_001124339.1:p.Ala282Ser
XM_011526611.1:c.838G>T XP_011524913.1:p.Ala280Ser
XR_935763.1:n.963G>T
XM_011526611.2:c.838G>T XP_011524913.1:p.Ala280Ser
XM_017026467.1:c.793G>T XP_016881956.1:p.Ala265Ser
XR_001753633.2:n.963G>T
XR_001753634.2:n.963G>T
NM_000400.4:c.916G>T MANE Select NP_000391.1:p.Ala306Ser
NM_001130867.2:c.844G>T NP_001124339.1:p.Ala282Ser