Canonical Allele Identifier: CA406363721

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856017C>G (hg19) ; chr19:g.45352759C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352759C>G , CM000681.2:g.45352759C>G	GRCh38
NC_000019.9:g.45856017C>G , CM000681.1:g.45856017C>G	GRCh37
NC_000019.8:g.50547857C>G	NCBI36
NG_007067.2:g.22829G>C , LRG_461:g.22829G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1889G>C	ENSP00000375808.4:p.Ser630Thr
ENST00000682414.1:c.1889G>C	ENSP00000507019.1:p.Ser630Thr
ENST00000682508.1:n.1918G>C
ENST00000684218.1:c.*1147G>C	ENSP00000507804.1:n.*1147G>C
ENST00000684264.1:n.1445G>C
ENST00000684407.1:c.1766G>C	ENSP00000507775.1:p.Ser589Thr
ENST00000684458.1:c.*375G>C	ENSP00000508260.1:n.*375G>C
ENST00000684468.1:n.1601G>C
ENST00000391945.10:c.1889G>C MANE Select	ENSP00000375809.4:p.Ser630Thr
ENST00000646507.1:n.1986G>C
ENST00000391941.6:c.1817G>C	ENSP00000375805.2:p.Ser606Thr
ENST00000391942.6:n.1060G>C
ENST00000391944.7:c.1655G>C	ENSP00000375808.3:p.Ser552Thr
ENST00000391945.8:c.1889G>C	ENSP00000375809.3:p.Ser630Thr
ENST00000588652.5:n.1977G>C
NM_000400.3:c.1889G>C , LRG_461t1:c.1889G>C	NP_000391.1:p.Ser630Thr
XM_011526611.1:c.1811G>C	XP_011524913.1:p.Ser604Thr
XM_011526611.2:c.1811G>C	XP_011524913.1:p.Ser604Thr
XM_017026467.1:c.1766G>C	XP_016881956.1:p.Ser589Thr
XR_001753633.2:n.1936G>C
XR_001753634.2:n.1872G>C
NM_000400.4:c.1889G>C MANE Select	NP_000391.1:p.Ser630Thr