Canonical Allele Identifier: CA308953398

Gene: ERCC2

Linked Data

• dbSNP Id: rs916548261
• gnomAD v3: 19-45353693-A-C
• gnomAD v4: 19-45353693-A-C
• MyVariant Identifiers: chr19:g.45856951A>C (hg19) ; chr19:g.45353693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353693A>C , CM000681.2:g.45353693A>C	GRCh38
NC_000019.9:g.45856951A>C , CM000681.1:g.45856951A>C	GRCh37
NC_000019.8:g.50548791A>C	NCBI36
NG_007067.2:g.21895T>G , LRG_461:g.21895T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-359T>G	ENSP00000375808.4:n.1666-359T>G
ENST00000682414.1:c.1666-359T>G	ENSP00000507019.1:n.1666-359T>G
ENST00000682508.1:n.1695-359T>G
ENST00000684218.1:c.*924-359T>G	ENSP00000507804.1:n.*924-359T>G
ENST00000684264.1:n.1222-359T>G
ENST00000684407.1:c.1543-359T>G	ENSP00000507775.1:n.1543-359T>G
ENST00000684458.1:c.*152-359T>G	ENSP00000508260.1:n.*152-359T>G
ENST00000684468.1:n.1378-359T>G
ENST00000391945.10:c.1666-359T>G MANE Select	ENSP00000375809.4:n.1666-359T>G
ENST00000587376.6:c.725-359T>G
ENST00000646507.1:n.1763-359T>G
ENST00000391941.6:c.1594-359T>G	ENSP00000375805.2:n.1594-359T>G
ENST00000391942.6:n.837-359T>G
ENST00000391944.7:c.1432-359T>G	ENSP00000375808.3:n.1432-359T>G
ENST00000391945.8:c.1666-359T>G	ENSP00000375809.3:n.1666-359T>G
ENST00000587376.5:c.725-359T>G
ENST00000588652.5:n.1754-359T>G
NM_000400.3:c.1666-359T>G , LRG_461t1:c.1666-359T>G	NP_000391.1:n.1666-359T>G
XM_011526611.1:c.1588-359T>G	XP_011524913.1:n.1588-359T>G
XR_935763.1:n.1649-359T>G
XM_011526611.2:c.1588-359T>G	XP_011524913.1:n.1588-359T>G
XM_017026467.1:c.1543-359T>G	XP_016881956.1:n.1543-359T>G
XR_001753633.2:n.1713-359T>G
XR_001753634.2:n.1649-359T>G
NM_000400.4:c.1666-359T>G MANE Select	NP_000391.1:n.1666-359T>G