Canonical Allele Identifier: CA633479935

Gene: ERCC2

Linked Data

• dbSNP Id: rs1315693556
• gnomAD v2: 19-45855832-C-CCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG
• MyVariant Identifiers: chr19:g.45855832_45855833insCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG (hg19) ; chr19:g.45352574_45352575insCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352574_45352575insCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG , CM000681.2:g.45352574_45352575insCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG	GRCh38
NC_000019.9:g.45855832_45855833insCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG , CM000681.1:g.45855832_45855833insCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG	GRCh37
NC_000019.8:g.50547672_50547673insCAACCTCAGTTCTTTGGGGAAACAGTGATCTGG	NCBI36
NG_007067.2:g.23013_23014insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG , LRG_461:g.23013_23014insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1977_1978insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000375808.4:p.His659_Ala660insProAspHisCysPheProLysGluL...
ENST00000682414.1:c.1977_1978insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000507019.1:p.His659_Ala660insProAspHisCysPheProLysGluL...
ENST00000682508.1:n.2006_2007insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
ENST00000684218.1:c.*1235_*1236insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000507804.1:n.*1235_*1236insCCAGATCACTGTTTCCCCAAAGAACTG...
ENST00000684264.1:n.1533_1534insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
ENST00000684407.1:c.1854_1855insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000507775.1:p.His618_Ala619insProAspHisCysPheProLysGluL...
ENST00000684458.1:c.*463_*464insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000508260.1:n.*463_*464insCCAGATCACTGTTTCCCCAAAGAACTGAG...
ENST00000684468.1:n.1689_1690insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
ENST00000391945.10:c.1977_1978insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG MANE Select	ENSP00000375809.4:p.His659_Ala660insProAspHisCysPheProLysGluL...
ENST00000646507.1:n.2074_2075insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
ENST00000391941.6:c.1905_1906insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000375805.2:p.His635_Ala636insProAspHisCysPheProLysGluL...
ENST00000391942.6:n.1148_1149insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
ENST00000391944.7:c.1743_1744insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000375808.3:p.His581_Ala582insProAspHisCysPheProLysGluL...
ENST00000391945.8:c.1977_1978insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	ENSP00000375809.3:p.His659_Ala660insProAspHisCysPheProLysGluL...
ENST00000588652.5:n.2065_2066insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
NM_000400.3:c.1977_1978insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG , LRG_461t1:c.1977_1978insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	NP_000391.1:p.His659_Ala660insProAspHisCysPheProLysGluLeuArgL...
XM_011526611.1:c.1899_1900insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	XP_011524913.1:p.His633_Ala634insProAspHisCysPheProLysGluLeuA...
XM_011526611.2:c.1899_1900insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	XP_011524913.1:p.His633_Ala634insProAspHisCysPheProLysGluLeuA...
XM_017026467.1:c.1854_1855insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG	XP_016881956.1:p.His618_Ala619insProAspHisCysPheProLysGluLeuA...
XR_001753633.2:n.2024_2025insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
XR_001753634.2:n.1960_1961insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG
NM_000400.4:c.1977_1978insCCAGATCACTGTTTCCCCAAAGAACTGAGGTTG MANE Select	NP_000391.1:p.His659_Ala660insProAspHisCysPheProLysGluLeuArgL...