Canonical Allele Identifier: CA308953961

Gene: ERCC2

Linked Data

• dbSNP Id: rs778671493
• MyVariant Identifiers: chr19:g.45857381_45857382del (hg19) ; chr19:g.45354123_45354124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354123_45354124del , CM000681.2:g.45354123_45354124del	GRCh38
NC_000019.9:g.45857381_45857382del , CM000681.1:g.45857381_45857382del	GRCh37
NC_000019.8:g.50549221_50549222del	NCBI36
NG_007067.2:g.21464_21465del , LRG_461:g.21464_21465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1665+606_1665+607del	ENSP00000375808.4:n.1665+606_1665+607del
ENST00000682414.1:c.1665+606_1665+607del	ENSP00000507019.1:n.1665+606_1665+607del
ENST00000682508.1:n.1694+606_1694+607del
ENST00000684218.1:c.*923+606_*923+607del	ENSP00000507804.1:n.*923+606_*923+607del
ENST00000684264.1:n.1221+606_1221+607del
ENST00000684407.1:c.1542+606_1542+607del	ENSP00000507775.1:n.1542+606_1542+607del
ENST00000684458.1:c.*151+606_*151+607del	ENSP00000508260.1:n.*151+606_*151+607del
ENST00000684468.1:n.1377+606_1377+607del
ENST00000391945.10:c.1665+606_1665+607del MANE Select	ENSP00000375809.4:n.1665+606_1665+607del
ENST00000587376.6:c.724+606_724+607del
ENST00000646507.1:n.1762+606_1762+607del
ENST00000391941.6:c.1593+606_1593+607del	ENSP00000375805.2:n.1593+606_1593+607del
ENST00000391942.6:n.836+606_836+607del
ENST00000391944.7:c.1431+606_1431+607del	ENSP00000375808.3:n.1431+606_1431+607del
ENST00000391945.8:c.1665+606_1665+607del	ENSP00000375809.3:n.1665+606_1665+607del
ENST00000587376.5:c.724+606_724+607del
ENST00000588652.5:n.1753+606_1753+607del
NM_000400.3:c.1665+606_1665+607del , LRG_461t1:c.1665+606_1665+607del	NP_000391.1:n.1665+606_1665+607del
XM_011526611.1:c.1587+606_1587+607del	XP_011524913.1:n.1587+606_1587+607del
XR_935763.1:n.1648+606_1648+607del
XM_011526611.2:c.1587+606_1587+607del	XP_011524913.1:n.1587+606_1587+607del
XM_017026467.1:c.1542+606_1542+607del	XP_016881956.1:n.1542+606_1542+607del
XR_001753633.2:n.1712+606_1712+607del
XR_001753634.2:n.1648+606_1648+607del
NM_000400.4:c.1665+606_1665+607del MANE Select	NP_000391.1:n.1665+606_1665+607del