Canonical Allele Identifier: CA996296096

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971902499
• gnomAD v3: 19-45353507-T-TTC
• gnomAD v4: 19-45353507-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353507_45353508insTC , CM000681.2:g.45353507_45353508insTC	GRCh38
NC_000019.9:g.45856765_45856766insTC , CM000681.1:g.45856765_45856766insTC	GRCh37
NC_000019.8:g.50548605_50548606insTC	NCBI36
NG_007067.2:g.22080_22081insGA , LRG_461:g.22080_22081insGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-174_1666-173insGA	ENSP00000375808.4:n.1666-174_1666-173insG...
ENST00000682414.1:c.1666-174_1666-173insGA	ENSP00000507019.1:n.1666-174_1666-173insG...
ENST00000682508.1:n.1695-174_1695-173insGA
ENST00000684218.1:c.*924-174_*924-173insGA	ENSP00000507804.1:n.*924-174_*924-173insG...
ENST00000684264.1:n.1222-174_1222-173insGA
ENST00000684407.1:c.1543-174_1543-173insGA	ENSP00000507775.1:n.1543-174_1543-173insG...
ENST00000684458.1:c.*152-174_*152-173insGA	ENSP00000508260.1:n.*152-174_*152-173insG...
ENST00000684468.1:n.1378-174_1378-173insGA
ENST00000391945.10:c.1666-174_1666-173insGA MANE Select	ENSP00000375809.4:n.1666-174_1666-173insG...
ENST00000587376.6:c.725-174_725-173insGA
ENST00000646507.1:n.1763-174_1763-173insGA
ENST00000391941.6:c.1594-174_1594-173insGA	ENSP00000375805.2:n.1594-174_1594-173insG...
ENST00000391942.6:n.837-174_837-173insGA
ENST00000391944.7:c.1432-174_1432-173insGA	ENSP00000375808.3:n.1432-174_1432-173insG...
ENST00000391945.8:c.1666-174_1666-173insGA	ENSP00000375809.3:n.1666-174_1666-173insG...
ENST00000587376.5:c.725-174_725-173insGA
ENST00000588652.5:n.1754-174_1754-173insGA
NM_000400.3:c.1666-174_1666-173insGA , LRG_461t1:c.1666-174_1666-173insGA	NP_000391.1:n.1666-174_1666-173insGA
XM_011526611.1:c.1588-174_1588-173insGA	XP_011524913.1:n.1588-174_1588-173insGA
XR_935763.1:n.1649-174_1649-173insGA
XM_011526611.2:c.1588-174_1588-173insGA	XP_011524913.1:n.1588-174_1588-173insGA
XM_017026467.1:c.1543-174_1543-173insGA	XP_016881956.1:n.1543-174_1543-173insGA
XR_001753633.2:n.1713-174_1713-173insGA
XR_001753634.2:n.1649-174_1649-173insGA
NM_000400.4:c.1666-174_1666-173insGA MANE Select	NP_000391.1:n.1666-174_1666-173insGA