Canonical Allele Identifier: CA9513747

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364880C>G , CM000681.2:g.45364880C>G	GRCh38
NC_000019.9:g.45868138C>G , CM000681.1:g.45868138C>G	GRCh37
NC_000019.8:g.50559978C>G	NCBI36
NG_007067.2:g.10708G>C , LRG_461:g.10708G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.552G>C MANE Select	NP_000391.1:p.Gly184=
ENST00000391945.10:c.552G>C MANE Select	ENSP00000375809.4:p.Gly184=
NM_000400.3:c.552G>C , LRG_461t1:c.552G>C	NP_000391.1:p.Gly184=
NM_001130867.1:c.480G>C	NP_001124339.1:p.Gly160=
NM_001130867.2:c.480G>C	NP_001124339.1:p.Gly160=
ENST00000391941.6:c.480G>C	ENSP00000375805.2:p.Gly160=
ENST00000391944.7:c.361-333G>C	ENSP00000375808.3:n.361-333G>C
ENST00000391944.8:c.552G>C	ENSP00000375808.4:p.Gly184=
ENST00000391945.8:c.552G>C	ENSP00000375809.3:p.Gly184=
ENST00000485403.6:c.480G>C	ENSP00000431229.2:p.Gly160=
ENST00000586131.5:c.480G>C	ENSP00000464887.1:p.Gly160=
ENST00000586131.6:c.480G>C	ENSP00000464887.1:p.Gly160=
ENST00000586441.1:n.544G>C
ENST00000586737.5:n.356-549G>C
ENST00000591309.5:c.361-549G>C	ENSP00000465207.1:n.361-549G>C
ENST00000646507.1:n.649G>C
ENST00000682414.1:c.552G>C	ENSP00000507019.1:p.Gly184=
ENST00000682508.1:n.581G>C
ENST00000684218.1:c.552G>C	ENSP00000507804.1:p.Gly184=
ENST00000684407.1:c.429G>C	ENSP00000507775.1:p.Gly143=
ENST00000684458.1:c.552G>C	ENSP00000508260.1:p.Gly184=
XM_011526611.1:c.474G>C	XP_011524913.1:p.Gly158=
XM_011526611.2:c.474G>C	XP_011524913.1:p.Gly158=
XM_017026467.1:c.429G>C	XP_016881956.1:p.Gly143=
XR_001753633.2:n.599G>C
XR_001753634.2:n.599G>C
XR_935763.1:n.599G>C