Canonical Allele Identifier: CA996296321

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971913021
• gnomAD v3: 19-45353731-G-C
• gnomAD v4: 19-45353731-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353731G>C , CM000681.2:g.45353731G>C	GRCh38
NC_000019.9:g.45856989G>C , CM000681.1:g.45856989G>C	GRCh37
NC_000019.8:g.50548829G>C	NCBI36
NG_007067.2:g.21857C>G , LRG_461:g.21857C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-397C>G	ENSP00000375808.4:n.1666-397C>G
ENST00000682414.1:c.1666-397C>G	ENSP00000507019.1:n.1666-397C>G
ENST00000682508.1:n.1695-397C>G
ENST00000684218.1:c.*924-397C>G	ENSP00000507804.1:n.*924-397C>G
ENST00000684264.1:n.1222-397C>G
ENST00000684407.1:c.1543-397C>G	ENSP00000507775.1:n.1543-397C>G
ENST00000684458.1:c.*152-397C>G	ENSP00000508260.1:n.*152-397C>G
ENST00000684468.1:n.1378-397C>G
ENST00000391945.10:c.1666-397C>G MANE Select	ENSP00000375809.4:n.1666-397C>G
ENST00000587376.6:c.725-397C>G
ENST00000646507.1:n.1763-397C>G
ENST00000391941.6:c.1594-397C>G	ENSP00000375805.2:n.1594-397C>G
ENST00000391942.6:n.837-397C>G
ENST00000391944.7:c.1432-397C>G	ENSP00000375808.3:n.1432-397C>G
ENST00000391945.8:c.1666-397C>G	ENSP00000375809.3:n.1666-397C>G
ENST00000587376.5:c.725-397C>G
ENST00000588652.5:n.1754-397C>G
NM_000400.3:c.1666-397C>G , LRG_461t1:c.1666-397C>G	NP_000391.1:n.1666-397C>G
XM_011526611.1:c.1588-397C>G	XP_011524913.1:n.1588-397C>G
XR_935763.1:n.1649-397C>G
XM_011526611.2:c.1588-397C>G	XP_011524913.1:n.1588-397C>G
XM_017026467.1:c.1543-397C>G	XP_016881956.1:n.1543-397C>G
XR_001753633.2:n.1713-397C>G
XR_001753634.2:n.1649-397C>G
NM_000400.4:c.1666-397C>G MANE Select	NP_000391.1:n.1666-397C>G