Canonical Allele Identifier: CA882715432

Gene: ERCC2

Linked Data

• dbSNP Id: rs1339053675
• gnomAD v3: 19-45352575-GTGGCGCA-G
• gnomAD v4: 19-45352575-GTGGCGCA-G
• MyVariant Identifiers: chr19:g.45855834_45855840del (hg19) ; chr19:g.45352576_45352582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352580_45352586del , CM000681.2:g.45352580_45352586del	GRCh38
NC_000019.9:g.45855838_45855844del , CM000681.1:g.45855838_45855844del	GRCh37
NC_000019.8:g.50547678_50547684del	NCBI36
NG_007067.2:g.23006_23012del , LRG_461:g.23006_23012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1970_1976del	ENSP00000375808.4:p.Met657ThrfsTer?
ENST00000682414.1:c.1970_1976del	ENSP00000507019.1:p.Met657ThrfsTer?
ENST00000682508.1:n.1999_2005del
ENST00000684218.1:c.*1228_*1234del	ENSP00000507804.1:n.*1228_*1234del
ENST00000684264.1:n.1526_1532del
ENST00000684407.1:c.1847_1853del	ENSP00000507775.1:p.Met616ThrfsTer?
ENST00000684458.1:c.*456_*462del	ENSP00000508260.1:n.*456_*462del
ENST00000684468.1:n.1682_1688del
ENST00000391945.10:c.1970_1976del MANE Select	ENSP00000375809.4:p.Met657ThrfsTer?
ENST00000646507.1:n.2067_2073del
ENST00000391941.6:c.1898_1904del	ENSP00000375805.2:p.Met633ThrfsTer?
ENST00000391942.6:n.1141_1147del
ENST00000391944.7:c.1736_1742del	ENSP00000375808.3:p.Met579ThrfsTer?
ENST00000391945.8:c.1970_1976del	ENSP00000375809.3:p.Met657ThrfsTer?
ENST00000588652.5:n.2058_2064del
NM_000400.3:c.1970_1976del , LRG_461t1:c.1970_1976del	NP_000391.1:p.Met657ThrfsTer?
XM_011526611.1:c.1892_1898del	XP_011524913.1:p.Met631ThrfsTer?
XM_011526611.2:c.1892_1898del	XP_011524913.1:p.Met631ThrfsTer?
XM_017026467.1:c.1847_1853del	XP_016881956.1:p.Met616ThrfsTer?
XR_001753633.2:n.2017_2023del
XR_001753634.2:n.1953_1959del
NM_000400.4:c.1970_1976del MANE Select	NP_000391.1:p.Met657ThrfsTer?