Canonical Allele Identifier: CA9513573

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 329520
• ClinVar RCV Id: RCV000990230 ; RCV001850765 ; RCV002487455
• dbSNP Id: rs757790912
• ExAC: 19:45867247 G / C
• gnomAD v2: 19-45867247-G-C
• gnomAD v3: 19-45363989-G-C
• gnomAD v4: 19-45363989-G-C
• COSMIC: COSM5973019 ; COSM5973020
• MyVariant Identifiers: chr19:g.45867247G>C (hg19) ; chr19:g.45363989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363989G>C , CM000681.2:g.45363989G>C	GRCh38
NC_000019.9:g.45867247G>C , CM000681.1:g.45867247G>C	GRCh37
NC_000019.8:g.50559087G>C	NCBI36
NG_007067.2:g.11599C>G , LRG_461:g.11599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.946C>G	ENSP00000375808.4:p.Gln316Glu
ENST00000682414.1:c.946C>G	ENSP00000507019.1:p.Gln316Glu
ENST00000682508.1:n.975C>G
ENST00000684218.1:c.*204C>G	ENSP00000507804.1:n.*204C>G
ENST00000684407.1:c.823C>G	ENSP00000507775.1:p.Gln275Glu
ENST00000684458.1:c.946C>G	ENSP00000508260.1:p.Gln316Glu
ENST00000391945.10:c.946C>G MANE Select	ENSP00000375809.4:p.Gln316Glu
ENST00000586131.6:c.874C>G	ENSP00000464887.1:p.Gln292Glu
ENST00000587376.6:c.69C>G
ENST00000646507.1:n.1043C>G
ENST00000391941.6:c.874C>G	ENSP00000375805.2:p.Gln292Glu
ENST00000391944.7:c.712C>G	ENSP00000375808.3:p.Gln238Glu
ENST00000391945.8:c.946C>G	ENSP00000375809.3:p.Gln316Glu
ENST00000485403.6:c.874C>G	ENSP00000431229.2:p.Gln292Glu
ENST00000586131.5:c.874C>G	ENSP00000464887.1:p.Gln292Glu
ENST00000587376.5:c.69C>G
NM_000400.3:c.946C>G , LRG_461t1:c.946C>G	NP_000391.1:p.Gln316Glu
NM_001130867.1:c.874C>G	NP_001124339.1:p.Gln292Glu
XM_011526611.1:c.868C>G	XP_011524913.1:p.Gln290Glu
XR_935763.1:n.993C>G
XM_011526611.2:c.868C>G	XP_011524913.1:p.Gln290Glu
XM_017026467.1:c.823C>G	XP_016881956.1:p.Gln275Glu
XR_001753633.2:n.993C>G
XR_001753634.2:n.993C>G
NM_000400.4:c.946C>G MANE Select	NP_000391.1:p.Gln316Glu
NM_001130867.2:c.874C>G	NP_001124339.1:p.Gln292Glu