Canonical Allele Identifier: CA9512887

Gene: ERCC2

Linked Data

• dbSNP Id: rs745801466
• ExAC: 19:45855554 G / C
• gnomAD v2: 19-45855554-G-C
• gnomAD v4: 19-45352296-G-C
• MyVariant Identifiers: chr19:g.45855554G>C (hg19) ; chr19:g.45352296G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352296G>C , CM000681.2:g.45352296G>C	GRCh38
NC_000019.9:g.45855554G>C , CM000681.1:g.45855554G>C	GRCh37
NC_000019.8:g.50547394G>C	NCBI36
NG_007067.2:g.23292C>G , LRG_461:g.23292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2103C>G	ENSP00000375808.4:p.Leu701=
ENST00000682414.1:c.2103C>G	ENSP00000507019.1:p.Leu701=
ENST00000682508.1:n.2132C>G
ENST00000684218.1:c.*1361C>G	ENSP00000507804.1:n.*1361C>G
ENST00000684264.1:n.1659C>G
ENST00000684407.1:c.1980C>G	ENSP00000507775.1:p.Leu660=
ENST00000684458.1:c.*589C>G	ENSP00000508260.1:n.*589C>G
ENST00000684468.1:n.1815C>G
ENST00000391945.10:c.2103C>G MANE Select	ENSP00000375809.4:p.Leu701=
ENST00000646507.1:n.2200C>G
ENST00000391941.6:c.2031C>G	ENSP00000375805.2:p.Leu677=
ENST00000391942.6:n.1274C>G
ENST00000391944.7:c.1869C>G	ENSP00000375808.3:p.Leu623=
ENST00000391945.8:c.2103C>G	ENSP00000375809.3:p.Leu701=
ENST00000588652.5:n.2191C>G
NM_000400.3:c.2103C>G , LRG_461t1:c.2103C>G	NP_000391.1:p.Leu701=
XM_011526611.1:c.2025C>G	XP_011524913.1:p.Leu675=
XM_011526611.2:c.2025C>G	XP_011524913.1:p.Leu675=
XM_017026467.1:c.1980C>G	XP_016881956.1:p.Leu660=
XR_001753633.2:n.2150C>G
XR_001753634.2:n.2086C>G
NM_000400.4:c.2103C>G MANE Select	NP_000391.1:p.Leu701=