Canonical Allele Identifier: CA406373409

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45867277C>A (hg19) ; chr19:g.45364019C>A (hg38)

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