Canonical Allele Identifier: CA406363377

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855864T>C (hg19) ; chr19:g.45352606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352606T>C , CM000681.2:g.45352606T>C	GRCh38
NC_000019.9:g.45855864T>C , CM000681.1:g.45855864T>C	GRCh37
NC_000019.8:g.50547704T>C	NCBI36
NG_007067.2:g.22982A>G , LRG_461:g.22982A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1946A>G	ENSP00000375808.4:p.Asn649Ser
ENST00000682414.1:c.1946A>G	ENSP00000507019.1:p.Asn649Ser
ENST00000682508.1:n.1975A>G
ENST00000684218.1:c.*1204A>G	ENSP00000507804.1:n.*1204A>G
ENST00000684264.1:n.1502A>G
ENST00000684407.1:c.1823A>G	ENSP00000507775.1:p.Asn608Ser
ENST00000684458.1:c.*432A>G	ENSP00000508260.1:n.*432A>G
ENST00000684468.1:n.1658A>G
ENST00000391945.10:c.1946A>G MANE Select	ENSP00000375809.4:p.Asn649Ser
ENST00000646507.1:n.2043A>G
ENST00000391941.6:c.1874A>G	ENSP00000375805.2:p.Asn625Ser
ENST00000391942.6:n.1117A>G
ENST00000391944.7:c.1712A>G	ENSP00000375808.3:p.Asn571Ser
ENST00000391945.8:c.1946A>G	ENSP00000375809.3:p.Asn649Ser
ENST00000588652.5:n.2034A>G
NM_000400.3:c.1946A>G , LRG_461t1:c.1946A>G	NP_000391.1:p.Asn649Ser
XM_011526611.1:c.1868A>G	XP_011524913.1:p.Asn623Ser
XM_011526611.2:c.1868A>G	XP_011524913.1:p.Asn623Ser
XM_017026467.1:c.1823A>G	XP_016881956.1:p.Asn608Ser
XR_001753633.2:n.1993A>G
XR_001753634.2:n.1929A>G
NM_000400.4:c.1946A>G MANE Select	NP_000391.1:p.Asn649Ser