Canonical Allele Identifier: CA406373074

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45363890-C-A
• MyVariant Identifiers: chr19:g.45867148C>A (hg19) ; chr19:g.45363890C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363890C>A , CM000681.2:g.45363890C>A	GRCh38
NC_000019.9:g.45867148C>A , CM000681.1:g.45867148C>A	GRCh37
NC_000019.8:g.50558988C>A	NCBI36
NG_007067.2:g.11698G>T , LRG_461:g.11698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.971G>T	ENSP00000375808.4:p.Arg324Leu
ENST00000682414.1:c.971G>T	ENSP00000507019.1:p.Arg324Leu
ENST00000682508.1:n.1000G>T
ENST00000684218.1:c.*229G>T	ENSP00000507804.1:n.*229G>T
ENST00000684407.1:c.848G>T	ENSP00000507775.1:p.Arg283Leu
ENST00000684458.1:c.971G>T	ENSP00000508260.1:p.Arg324Leu
ENST00000391945.10:c.971G>T MANE Select	ENSP00000375809.4:p.Arg324Leu
ENST00000587376.6:c.94G>T
ENST00000646507.1:n.1068G>T
ENST00000391941.6:c.899G>T	ENSP00000375805.2:p.Arg300Leu
ENST00000391944.7:c.737G>T	ENSP00000375808.3:p.Arg246Leu
ENST00000391945.8:c.971G>T	ENSP00000375809.3:p.Arg324Leu
ENST00000485403.6:c.899G>T	ENSP00000431229.2:p.Arg300Leu
ENST00000587376.5:c.94G>T
NM_000400.3:c.971G>T , LRG_461t1:c.971G>T	NP_000391.1:p.Arg324Leu
NM_001130867.1:c.899G>T	NP_001124339.1:p.Arg300Leu
XM_011526611.1:c.893G>T	XP_011524913.1:p.Arg298Leu
XR_935763.1:n.1018G>T
XM_011526611.2:c.893G>T	XP_011524913.1:p.Arg298Leu
XM_017026467.1:c.848G>T	XP_016881956.1:p.Arg283Leu
XR_001753633.2:n.1018G>T
XR_001753634.2:n.1018G>T
NM_000400.4:c.971G>T MANE Select	NP_000391.1:p.Arg324Leu
NM_001130867.2:c.899G>T	NP_001124339.1:p.Arg300Leu