Canonical Allele Identifier: CA308969881

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364956T>C , CM000681.2:g.45364956T>C	GRCh38
NC_000019.9:g.45868214T>C , CM000681.1:g.45868214T>C	GRCh37
NC_000019.8:g.50560054T>C	NCBI36
NG_007067.2:g.10632A>G , LRG_461:g.10632A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.478-2A>G MANE Select	NP_000391.1:n.478-2A>G
ENST00000391945.10:c.478-2A>G MANE Select	ENSP00000375809.4:n.478-2A>G
NM_000400.3:c.478-2A>G , LRG_461t1:c.478-2A>G	NP_000391.1:n.478-2A>G
NM_001130867.1:c.406-2A>G	NP_001124339.1:n.406-2A>G
NM_001130867.2:c.406-2A>G	NP_001124339.1:n.406-2A>G
ENST00000391941.6:c.406-2A>G	ENSP00000375805.2:n.406-2A>G
ENST00000391944.7:c.361-409A>G	ENSP00000375808.3:n.361-409A>G
ENST00000391944.8:c.478-2A>G	ENSP00000375808.4:n.478-2A>G
ENST00000391945.8:c.478-2A>G	ENSP00000375809.3:n.478-2A>G
ENST00000485403.6:c.406-2A>G	ENSP00000431229.2:n.406-2A>G
ENST00000586131.5:c.406-2A>G	ENSP00000464887.1:n.406-2A>G
ENST00000586131.6:c.406-2A>G	ENSP00000464887.1:n.406-2A>G
ENST00000586441.1:n.470-2A>G
ENST00000586737.5:n.356-625A>G
ENST00000591309.5:c.361-625A>G	ENSP00000465207.1:n.361-625A>G
ENST00000646507.1:n.575-2A>G
ENST00000682414.1:c.478-2A>G	ENSP00000507019.1:n.478-2A>G
ENST00000682508.1:n.507-2A>G
ENST00000684218.1:c.478-2A>G	ENSP00000507804.1:n.478-2A>G
ENST00000684407.1:c.355-2A>G	ENSP00000507775.1:n.355-2A>G
ENST00000684458.1:c.478-2A>G	ENSP00000508260.1:n.478-2A>G
XM_011526611.1:c.400-2A>G	XP_011524913.1:n.400-2A>G
XM_011526611.2:c.400-2A>G	XP_011524913.1:n.400-2A>G
XM_017026467.1:c.355-2A>G	XP_016881956.1:n.355-2A>G
XR_001753633.2:n.525-2A>G
XR_001753634.2:n.525-2A>G
XR_935763.1:n.525-2A>G