Canonical Allele Identifier: CA406365310

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45858030G>C (hg19) ; chr19:g.45354772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354772G>C , CM000681.2:g.45354772G>C	GRCh38
NC_000019.9:g.45858030G>C , CM000681.1:g.45858030G>C	GRCh37
NC_000019.8:g.50549870G>C	NCBI36
NG_007067.2:g.20816C>G , LRG_461:g.20816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1623C>G	ENSP00000375808.4:p.Ser541Arg
ENST00000682414.1:c.1623C>G	ENSP00000507019.1:p.Ser541Arg
ENST00000682508.1:n.1652C>G
ENST00000684218.1:c.*881C>G	ENSP00000507804.1:n.*881C>G
ENST00000684264.1:n.1179C>G
ENST00000684407.1:c.1500C>G	ENSP00000507775.1:p.Ser500Arg
ENST00000684458.1:c.*109C>G	ENSP00000508260.1:n.*109C>G
ENST00000684468.1:n.1335C>G
ENST00000391945.10:c.1623C>G MANE Select	ENSP00000375809.4:p.Ser541Arg
ENST00000587376.6:c.682C>G
ENST00000646507.1:n.1720C>G
ENST00000391941.6:c.1551C>G	ENSP00000375805.2:p.Ser517Arg
ENST00000391942.6:n.794C>G
ENST00000391944.7:c.1389C>G	ENSP00000375808.3:p.Ser463Arg
ENST00000391945.8:c.1623C>G	ENSP00000375809.3:p.Ser541Arg
ENST00000587376.5:c.682C>G
ENST00000588652.5:n.1711C>G
NM_000400.3:c.1623C>G , LRG_461t1:c.1623C>G	NP_000391.1:p.Ser541Arg
XM_011526611.1:c.1545C>G	XP_011524913.1:p.Ser515Arg
XR_935763.1:n.1606C>G
XM_011526611.2:c.1545C>G	XP_011524913.1:p.Ser515Arg
XM_017026467.1:c.1500C>G	XP_016881956.1:p.Ser500Arg
XR_001753633.2:n.1670C>G
XR_001753634.2:n.1606C>G
NM_000400.4:c.1623C>G MANE Select	NP_000391.1:p.Ser541Arg