Canonical Allele Identifier: CA406364401

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856526T>G (hg19) ; chr19:g.45353268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353268T>G , CM000681.2:g.45353268T>G	GRCh38
NC_000019.9:g.45856526T>G , CM000681.1:g.45856526T>G	GRCh37
NC_000019.8:g.50548366T>G	NCBI36
NG_007067.2:g.22320A>C , LRG_461:g.22320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1732A>C	ENSP00000375808.4:p.Ser578Arg
ENST00000682414.1:c.1732A>C	ENSP00000507019.1:p.Ser578Arg
ENST00000682508.1:n.1761A>C
ENST00000684218.1:c.*990A>C	ENSP00000507804.1:n.*990A>C
ENST00000684264.1:n.1288A>C
ENST00000684407.1:c.1609A>C	ENSP00000507775.1:p.Ser537Arg
ENST00000684458.1:c.*218A>C	ENSP00000508260.1:n.*218A>C
ENST00000684468.1:n.1444A>C
ENST00000391945.10:c.1732A>C MANE Select	ENSP00000375809.4:p.Ser578Arg
ENST00000587376.6:c.791A>C
ENST00000646507.1:n.1829A>C
ENST00000391941.6:c.1660A>C	ENSP00000375805.2:p.Ser554Arg
ENST00000391942.6:n.903A>C
ENST00000391944.7:c.1498A>C	ENSP00000375808.3:p.Ser500Arg
ENST00000391945.8:c.1732A>C	ENSP00000375809.3:p.Ser578Arg
ENST00000587376.5:c.791A>C
ENST00000588652.5:n.1820A>C
NM_000400.3:c.1732A>C , LRG_461t1:c.1732A>C	NP_000391.1:p.Ser578Arg
XM_011526611.1:c.1654A>C	XP_011524913.1:p.Ser552Arg
XR_935763.1:n.1715A>C
XM_011526611.2:c.1654A>C	XP_011524913.1:p.Ser552Arg
XM_017026467.1:c.1609A>C	XP_016881956.1:p.Ser537Arg
XR_001753633.2:n.1779A>C
XR_001753634.2:n.1715A>C
NM_000400.4:c.1732A>C MANE Select	NP_000391.1:p.Ser578Arg