Canonical Allele Identifier: CA882717298

Gene: ERCC2

Linked Data

• dbSNP Id: rs1189839613
• gnomAD v3: 19-45353989-TG-T
• gnomAD v4: 19-45353989-TG-T
• MyVariant Identifiers: chr19:g.45857248del (hg19) ; chr19:g.45353990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353992del , CM000681.2:g.45353992del	GRCh38
NC_000019.9:g.45857250del , CM000681.1:g.45857250del	GRCh37
NC_000019.8:g.50549090del	NCBI36
NG_007067.2:g.21598del , LRG_461:g.21598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-656del	ENSP00000375808.4:n.1666-656del
ENST00000682414.1:c.1666-656del	ENSP00000507019.1:n.1666-656del
ENST00000682508.1:n.1695-656del
ENST00000684218.1:c.*924-656del	ENSP00000507804.1:n.*924-656del
ENST00000684264.1:n.1222-656del
ENST00000684407.1:c.1543-656del	ENSP00000507775.1:n.1543-656del
ENST00000684458.1:c.*152-656del	ENSP00000508260.1:n.*152-656del
ENST00000684468.1:n.1378-656del
ENST00000391945.10:c.1666-656del MANE Select	ENSP00000375809.4:n.1666-656del
ENST00000587376.6:c.725-656del
ENST00000646507.1:n.1763-656del
ENST00000391941.6:c.1594-656del	ENSP00000375805.2:n.1594-656del
ENST00000391942.6:n.837-656del
ENST00000391944.7:c.1432-656del	ENSP00000375808.3:n.1432-656del
ENST00000391945.8:c.1666-656del	ENSP00000375809.3:n.1666-656del
ENST00000587376.5:c.725-656del
ENST00000588652.5:n.1754-656del
NM_000400.3:c.1666-656del , LRG_461t1:c.1666-656del	NP_000391.1:n.1666-656del
XM_011526611.1:c.1588-656del	XP_011524913.1:n.1588-656del
XR_935763.1:n.1649-656del
XM_011526611.2:c.1588-656del	XP_011524913.1:n.1588-656del
XM_017026467.1:c.1543-656del	XP_016881956.1:n.1543-656del
XR_001753633.2:n.1713-656del
XR_001753634.2:n.1649-656del
NM_000400.4:c.1666-656del MANE Select	NP_000391.1:n.1666-656del