Canonical Allele Identifier: CA406373339

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45867264A>C (hg19) ; chr19:g.45364006A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364006A>C , CM000681.2:g.45364006A>C	GRCh38
NC_000019.9:g.45867264A>C , CM000681.1:g.45867264A>C	GRCh37
NC_000019.8:g.50559104A>C	NCBI36
NG_007067.2:g.11582T>G , LRG_461:g.11582T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.929T>G	ENSP00000375808.4:p.Leu310Arg
ENST00000682414.1:c.929T>G	ENSP00000507019.1:p.Leu310Arg
ENST00000682508.1:n.958T>G
ENST00000684218.1:c.*187T>G	ENSP00000507804.1:n.*187T>G
ENST00000684407.1:c.806T>G	ENSP00000507775.1:p.Leu269Arg
ENST00000684458.1:c.929T>G	ENSP00000508260.1:p.Leu310Arg
ENST00000391945.10:c.929T>G MANE Select	ENSP00000375809.4:p.Leu310Arg
ENST00000586131.6:c.857T>G	ENSP00000464887.1:p.Leu286Arg
ENST00000587376.6:c.52T>G
ENST00000646507.1:n.1026T>G
ENST00000391941.6:c.857T>G	ENSP00000375805.2:p.Leu286Arg
ENST00000391944.7:c.695T>G	ENSP00000375808.3:p.Leu232Arg
ENST00000391945.8:c.929T>G	ENSP00000375809.3:p.Leu310Arg
ENST00000485403.6:c.857T>G	ENSP00000431229.2:p.Leu286Arg
ENST00000586131.5:c.857T>G	ENSP00000464887.1:p.Leu286Arg
ENST00000587376.5:c.52T>G
NM_000400.3:c.929T>G , LRG_461t1:c.929T>G	NP_000391.1:p.Leu310Arg
NM_001130867.1:c.857T>G	NP_001124339.1:p.Leu286Arg
XM_011526611.1:c.851T>G	XP_011524913.1:p.Leu284Arg
XR_935763.1:n.976T>G
XM_011526611.2:c.851T>G	XP_011524913.1:p.Leu284Arg
XM_017026467.1:c.806T>G	XP_016881956.1:p.Leu269Arg
XR_001753633.2:n.976T>G
XR_001753634.2:n.976T>G
NM_000400.4:c.929T>G MANE Select	NP_000391.1:p.Leu310Arg
NM_001130867.2:c.857T>G	NP_001124339.1:p.Leu286Arg