Canonical Allele Identifier: CA406366952

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860538A>G (hg19) ; chr19:g.45357280A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357280A>G , CM000681.2:g.45357280A>G	GRCh38
NC_000019.9:g.45860538A>G , CM000681.1:g.45860538A>G	GRCh37
NC_000019.8:g.50552378A>G	NCBI36
NG_007067.2:g.18308T>C , LRG_461:g.18308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1469T>C	ENSP00000375808.4:p.Leu490Pro
ENST00000682414.1:c.1469T>C	ENSP00000507019.1:p.Leu490Pro
ENST00000682508.1:n.1498T>C
ENST00000684218.1:c.*727T>C	ENSP00000507804.1:n.*727T>C
ENST00000684264.1:n.1025T>C
ENST00000684407.1:c.1346T>C	ENSP00000507775.1:p.Leu449Pro
ENST00000684458.1:c.*19T>C	ENSP00000508260.1:n.*19T>C
ENST00000684468.1:n.1245T>C
ENST00000391945.10:c.1469T>C MANE Select	ENSP00000375809.4:p.Leu490Pro
ENST00000587376.6:c.592T>C
ENST00000646507.1:n.1566T>C
ENST00000391941.6:c.1397T>C	ENSP00000375805.2:p.Leu466Pro
ENST00000391942.6:n.640T>C
ENST00000391944.7:c.1235T>C	ENSP00000375808.3:p.Leu412Pro
ENST00000391945.8:c.1469T>C	ENSP00000375809.3:p.Leu490Pro
ENST00000587376.5:c.592T>C
ENST00000588652.5:n.1557T>C
NM_000400.3:c.1469T>C , LRG_461t1:c.1469T>C	NP_000391.1:p.Leu490Pro
XM_011526611.1:c.1391T>C	XP_011524913.1:p.Leu464Pro
XR_935763.1:n.1516T>C
XM_011526611.2:c.1391T>C	XP_011524913.1:p.Leu464Pro
XM_017026467.1:c.1346T>C	XP_016881956.1:p.Leu449Pro
XR_001753633.2:n.1516T>C
XR_001753634.2:n.1516T>C
NM_000400.4:c.1469T>C MANE Select	NP_000391.1:p.Leu490Pro