Canonical Allele Identifier: CA882717083

Gene: ERCC2

Linked Data

• dbSNP Id: rs1456790023
• gnomAD v3: 19-45353694-T-C
• gnomAD v4: 19-45353694-T-C
• MyVariant Identifiers: chr19:g.45856952T>C (hg19) ; chr19:g.45353694T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353694T>C , CM000681.2:g.45353694T>C	GRCh38
NC_000019.9:g.45856952T>C , CM000681.1:g.45856952T>C	GRCh37
NC_000019.8:g.50548792T>C	NCBI36
NG_007067.2:g.21894A>G , LRG_461:g.21894A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-360A>G	ENSP00000375808.4:n.1666-360A>G
ENST00000682414.1:c.1666-360A>G	ENSP00000507019.1:n.1666-360A>G
ENST00000682508.1:n.1695-360A>G
ENST00000684218.1:c.*924-360A>G	ENSP00000507804.1:n.*924-360A>G
ENST00000684264.1:n.1222-360A>G
ENST00000684407.1:c.1543-360A>G	ENSP00000507775.1:n.1543-360A>G
ENST00000684458.1:c.*152-360A>G	ENSP00000508260.1:n.*152-360A>G
ENST00000684468.1:n.1378-360A>G
ENST00000391945.10:c.1666-360A>G MANE Select	ENSP00000375809.4:n.1666-360A>G
ENST00000587376.6:c.725-360A>G
ENST00000646507.1:n.1763-360A>G
ENST00000391941.6:c.1594-360A>G	ENSP00000375805.2:n.1594-360A>G
ENST00000391942.6:n.837-360A>G
ENST00000391944.7:c.1432-360A>G	ENSP00000375808.3:n.1432-360A>G
ENST00000391945.8:c.1666-360A>G	ENSP00000375809.3:n.1666-360A>G
ENST00000587376.5:c.725-360A>G
ENST00000588652.5:n.1754-360A>G
NM_000400.3:c.1666-360A>G , LRG_461t1:c.1666-360A>G	NP_000391.1:n.1666-360A>G
XM_011526611.1:c.1588-360A>G	XP_011524913.1:n.1588-360A>G
XR_935763.1:n.1649-360A>G
XM_011526611.2:c.1588-360A>G	XP_011524913.1:n.1588-360A>G
XM_017026467.1:c.1543-360A>G	XP_016881956.1:n.1543-360A>G
XR_001753633.2:n.1713-360A>G
XR_001753634.2:n.1649-360A>G
NM_000400.4:c.1666-360A>G MANE Select	NP_000391.1:n.1666-360A>G