Canonical Allele Identifier: CA406367033

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1772811
• ClinVar RCV Id: RCV002394467
• dbSNP Id: rs1972044762
• gnomAD v3: 19-45357302-T-C
• gnomAD v4: 19-45357302-T-C
• MyVariant Identifiers: chr19:g.45860560T>C (hg19) ; chr19:g.45357302T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357302T>C , CM000681.2:g.45357302T>C	GRCh38
NC_000019.9:g.45860560T>C , CM000681.1:g.45860560T>C	GRCh37
NC_000019.8:g.50552400T>C	NCBI36
NG_007067.2:g.18286A>G , LRG_461:g.18286A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1447A>G	ENSP00000375808.4:p.Met483Val
ENST00000682414.1:c.1447A>G	ENSP00000507019.1:p.Met483Val
ENST00000682508.1:n.1476A>G
ENST00000684218.1:c.*705A>G	ENSP00000507804.1:n.*705A>G
ENST00000684264.1:n.1003A>G
ENST00000684407.1:c.1324A>G	ENSP00000507775.1:p.Met442Val
ENST00000684458.1:c.1377A>G	ENSP00000508260.1:p.Pro459=
ENST00000684468.1:n.1223A>G
ENST00000391945.10:c.1447A>G MANE Select	ENSP00000375809.4:p.Met483Val
ENST00000587376.6:c.570A>G
ENST00000646507.1:n.1544A>G
ENST00000391941.6:c.1375A>G	ENSP00000375805.2:p.Met459Val
ENST00000391942.6:n.618A>G
ENST00000391944.7:c.1213A>G	ENSP00000375808.3:p.Met405Val
ENST00000391945.8:c.1447A>G	ENSP00000375809.3:p.Met483Val
ENST00000587376.5:c.570A>G
ENST00000588652.5:n.1535A>G
NM_000400.3:c.1447A>G , LRG_461t1:c.1447A>G	NP_000391.1:p.Met483Val
XM_011526611.1:c.1369A>G	XP_011524913.1:p.Met457Val
XR_935763.1:n.1494A>G
XM_011526611.2:c.1369A>G	XP_011524913.1:p.Met457Val
XM_017026467.1:c.1324A>G	XP_016881956.1:p.Met442Val
XR_001753633.2:n.1494A>G
XR_001753634.2:n.1494A>G
NM_000400.4:c.1447A>G MANE Select	NP_000391.1:p.Met483Val