Canonical Allele Identifier: CA2585785698

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352915-G-GAACACACCCTCTCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352916_45352917insACACACCCTCTCCCCCCAA , CM000681.2:g.45352916_45352917insACACACCCTCTCCCCCCAA	GRCh38
NC_000019.9:g.45856174_45856175insACACACCCTCTCCCCCCAA , CM000681.1:g.45856174_45856175insACACACCCTCTCCCCCCAA	GRCh37
NC_000019.8:g.50548014_50548015insACACACCCTCTCCCCCCAA	NCBI36
NG_007067.2:g.22672_22673insTGGGGGGAGAGGGTGTGTT , LRG_461:g.22672_22673insTGGGGGGAGAGGGTGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT	ENSP00000375808.4:n.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT
ENST00000682414.1:c.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT	ENSP00000507019.1:n.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT
ENST00000682508.1:n.1861-100_1861-99insTGGGGGGAGAGGGTGTGTT
ENST00000684218.1:c.*1090-100_*1090-99insTGGGGGGAGAGGGTGTGTT	ENSP00000507804.1:n.*1090-100_*1090-99insTGGGGGGAGAGGGTGTGTT
ENST00000684264.1:n.1388-100_1388-99insTGGGGGGAGAGGGTGTGTT
ENST00000684407.1:c.1709-100_1709-99insTGGGGGGAGAGGGTGTGTT	ENSP00000507775.1:n.1709-100_1709-99insTGGGGGGAGAGGGTGTGTT
ENST00000684458.1:c.*318-100_*318-99insTGGGGGGAGAGGGTGTGTT	ENSP00000508260.1:n.*318-100_*318-99insTGGGGGGAGAGGGTGTGTT
ENST00000684468.1:n.1544-100_1544-99insTGGGGGGAGAGGGTGTGTT
ENST00000391945.10:c.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT MANE Select	ENSP00000375809.4:n.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT
ENST00000646507.1:n.1929-100_1929-99insTGGGGGGAGAGGGTGTGTT
ENST00000391941.6:c.1760-100_1760-99insTGGGGGGAGAGGGTGTGTT	ENSP00000375805.2:n.1760-100_1760-99insTGGGGGGAGAGGGTGTGTT
ENST00000391942.6:n.1003-100_1003-99insTGGGGGGAGAGGGTGTGTT
ENST00000391944.7:c.1598-100_1598-99insTGGGGGGAGAGGGTGTGTT	ENSP00000375808.3:n.1598-100_1598-99insTGGGGGGAGAGGGTGTGTT
ENST00000391945.8:c.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT	ENSP00000375809.3:n.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT
ENST00000588652.5:n.1920-100_1920-99insTGGGGGGAGAGGGTGTGTT
NM_000400.3:c.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT , LRG_461t1:c.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT	NP_000391.1:n.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT
XM_011526611.1:c.1754-100_1754-99insTGGGGGGAGAGGGTGTGTT	XP_011524913.1:n.1754-100_1754-99insTGGGGGGAGAGGGTGTGTT
XM_011526611.2:c.1754-100_1754-99insTGGGGGGAGAGGGTGTGTT	XP_011524913.1:n.1754-100_1754-99insTGGGGGGAGAGGGTGTGTT
XM_017026467.1:c.1709-100_1709-99insTGGGGGGAGAGGGTGTGTT	XP_016881956.1:n.1709-100_1709-99insTGGGGGGAGAGGGTGTGTT
XR_001753633.2:n.1879-100_1879-99insTGGGGGGAGAGGGTGTGTT
XR_001753634.2:n.1815-100_1815-99insTGGGGGGAGAGGGTGTGTT
NM_000400.4:c.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT MANE Select	NP_000391.1:n.1832-100_1832-99insTGGGGGGAGAGGGTGTGTT