Canonical Allele Identifier: CA633480487

Gene: ERCC2

Linked Data

• dbSNP Id: rs1174180619
• gnomAD v2: 19-45856498-ACCTCC-A
• gnomAD v4: 19-45353240-ACCTCC-A
• MyVariant Identifiers: chr19:g.45856499_45856503del (hg19) ; chr19:g.45353241_45353245del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353241_45353245del , CM000681.2:g.45353241_45353245del	GRCh38
NC_000019.9:g.45856499_45856503del , CM000681.1:g.45856499_45856503del	GRCh37
NC_000019.8:g.50548339_50548343del	NCBI36
NG_007067.2:g.22343_22347del , LRG_461:g.22343_22347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1755_1758+1del
ENST00000682414.1:c.1755_1758+1del
ENST00000682508.1:n.1784_1787+1del
ENST00000684218.1:c.*1013_*1016+1del
ENST00000684264.1:n.1311_1314+1del
ENST00000684407.1:c.1632_1635+1del
ENST00000684458.1:c.*241_*244+1del
ENST00000684468.1:n.1467_1470+1del
ENST00000391945.10:c.1755_1758+1del
ENST00000587376.6:c.814_817+1del
ENST00000646507.1:n.1852_1855+1del
ENST00000391941.6:c.1683_1686+1del
ENST00000391942.6:n.926_929+1del
ENST00000391944.7:c.1521_1524+1del
ENST00000391945.8:c.1755_1758+1del
ENST00000588652.5:n.1843_1846+1del
NM_000400.3:c.1755_1758+1del , LRG_461t1:c.1755_1758+1del
XM_011526611.1:c.1677_1680+1del
XR_935763.1:n.1738_1742del
XM_011526611.2:c.1677_1680+1del
XM_017026467.1:c.1632_1635+1del
XR_001753633.2:n.1802_1805+1del
XR_001753634.2:n.1738_1741+1del
NM_000400.4:c.1755_1758+1del