Canonical Allele Identifier: CA308966377

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1662036
• ClinVar RCV Id: RCV002179028 ; RCV002382450
• dbSNP Id: rs758495395
• gnomAD v2: 19-45867144-C-G
• gnomAD v3: 19-45363886-C-G
• gnomAD v4: 19-45363886-C-G
• MyVariant Identifiers: chr19:g.45867144C>G (hg19) ; chr19:g.45363886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363886C>G , CM000681.2:g.45363886C>G	GRCh38
NC_000019.9:g.45867144C>G , CM000681.1:g.45867144C>G	GRCh37
NC_000019.8:g.50558984C>G	NCBI36
NG_007067.2:g.11702G>C , LRG_461:g.11702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.975G>C	ENSP00000375808.4:p.Thr325=
ENST00000682414.1:c.975G>C	ENSP00000507019.1:p.Thr325=
ENST00000682508.1:n.1004G>C
ENST00000684218.1:c.*233G>C	ENSP00000507804.1:n.*233G>C
ENST00000684407.1:c.852G>C	ENSP00000507775.1:p.Thr284=
ENST00000684458.1:c.975G>C	ENSP00000508260.1:p.Thr325=
ENST00000391945.10:c.975G>C MANE Select	ENSP00000375809.4:p.Thr325=
ENST00000587376.6:c.98G>C
ENST00000646507.1:n.1072G>C
ENST00000391941.6:c.903G>C	ENSP00000375805.2:p.Thr301=
ENST00000391944.7:c.741G>C	ENSP00000375808.3:p.Thr247=
ENST00000391945.8:c.975G>C	ENSP00000375809.3:p.Thr325=
ENST00000485403.6:c.903G>C	ENSP00000431229.2:p.Thr301=
ENST00000587376.5:c.98G>C
NM_000400.3:c.975G>C , LRG_461t1:c.975G>C	NP_000391.1:p.Thr325=
NM_001130867.1:c.903G>C	NP_001124339.1:p.Thr301=
XM_011526611.1:c.897G>C	XP_011524913.1:p.Thr299=
XR_935763.1:n.1022G>C
XM_011526611.2:c.897G>C	XP_011524913.1:p.Thr299=
XM_017026467.1:c.852G>C	XP_016881956.1:p.Thr284=
XR_001753633.2:n.1022G>C
XR_001753634.2:n.1022G>C
NM_000400.4:c.975G>C MANE Select	NP_000391.1:p.Thr325=
NM_001130867.2:c.903G>C	NP_001124339.1:p.Thr301=