Canonical Allele Identifier: CA406373349

Gene: ERCC2

Linked Data

• dbSNP Id: rs1166266405
• gnomAD v2: 19-45867265-G-T
• gnomAD v4: 19-45364007-G-T
• MyVariant Identifiers: chr19:g.45867265G>T (hg19) ; chr19:g.45364007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364007G>T , CM000681.2:g.45364007G>T	GRCh38
NC_000019.9:g.45867265G>T , CM000681.1:g.45867265G>T	GRCh37
NC_000019.8:g.50559105G>T	NCBI36
NG_007067.2:g.11581C>A , LRG_461:g.11581C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.928C>A	ENSP00000375808.4:p.Leu310Met
ENST00000682414.1:c.928C>A	ENSP00000507019.1:p.Leu310Met
ENST00000682508.1:n.957C>A
ENST00000684218.1:c.*186C>A	ENSP00000507804.1:n.*186C>A
ENST00000684407.1:c.805C>A	ENSP00000507775.1:p.Leu269Met
ENST00000684458.1:c.928C>A	ENSP00000508260.1:p.Leu310Met
ENST00000391945.10:c.928C>A MANE Select	ENSP00000375809.4:p.Leu310Met
ENST00000586131.6:c.856C>A	ENSP00000464887.1:p.Leu286Met
ENST00000587376.6:c.51C>A
ENST00000646507.1:n.1025C>A
ENST00000391941.6:c.856C>A	ENSP00000375805.2:p.Leu286Met
ENST00000391944.7:c.694C>A	ENSP00000375808.3:p.Leu232Met
ENST00000391945.8:c.928C>A	ENSP00000375809.3:p.Leu310Met
ENST00000485403.6:c.856C>A	ENSP00000431229.2:p.Leu286Met
ENST00000586131.5:c.856C>A	ENSP00000464887.1:p.Leu286Met
ENST00000587376.5:c.51C>A
NM_000400.3:c.928C>A , LRG_461t1:c.928C>A	NP_000391.1:p.Leu310Met
NM_001130867.1:c.856C>A	NP_001124339.1:p.Leu286Met
XM_011526611.1:c.850C>A	XP_011524913.1:p.Leu284Met
XR_935763.1:n.975C>A
XM_011526611.2:c.850C>A	XP_011524913.1:p.Leu284Met
XM_017026467.1:c.805C>A	XP_016881956.1:p.Leu269Met
XR_001753633.2:n.975C>A
XR_001753634.2:n.975C>A
NM_000400.4:c.928C>A MANE Select	NP_000391.1:p.Leu310Met
NM_001130867.2:c.856C>A	NP_001124339.1:p.Leu286Met