Canonical Allele Identifier: CA2338388914

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352589_45352597delinsCGAAGGTAA , CM000681.2:g.45352589_45352597delinsCGAAGGTAA	GRCh38
NC_000019.9:g.45855847_45855855delinsCGAAGGTAA , CM000681.1:g.45855847_45855855delinsCGAAGGTAA	GRCh37
NC_000019.8:g.50547687_50547695delinsCGAAGGTAA	NCBI36
NG_007067.2:g.22991_22999delinsTTACCTTCG , LRG_461:g.22991_22999delinsTTACCTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1955_1963delinsTTACCTTCG	ENSP00000375808.4:p.Leu652=
ENST00000682414.1:c.1955_1963delinsTTACCTTCG	ENSP00000507019.1:p.Leu652=
ENST00000682508.1:n.1984_1992delinsTTACCTTCG
ENST00000684218.1:c.*1213_*1221delinsTTACCTTCG	ENSP00000507804.1:n.*1213_*1221delinsTTACCTTCG
ENST00000684264.1:n.1511_1519delinsTTACCTTCG
ENST00000684407.1:c.1832_1840delinsTTACCTTCG	ENSP00000507775.1:p.Leu611=
ENST00000684458.1:c.*441_*449delinsTTACCTTCG	ENSP00000508260.1:n.*441_*449delinsTTACCTTCG
ENST00000684468.1:n.1667_1675delinsTTACCTTCG
ENST00000391945.10:c.1955_1963delinsTTACCTTCG MANE Select	ENSP00000375809.4:p.Leu652=
ENST00000646507.1:n.2052_2060delinsTTACCTTCG
ENST00000391941.6:c.1883_1891delinsTTACCTTCG	ENSP00000375805.2:p.Leu628=
ENST00000391942.6:n.1126_1134delinsTTACCTTCG
ENST00000391944.7:c.1721_1729delinsTTACCTTCG	ENSP00000375808.3:p.Leu574=
ENST00000391945.8:c.1955_1963delinsTTACCTTCG	ENSP00000375809.3:p.Leu652=
ENST00000588652.5:n.2043_2051delinsTTACCTTCG
NM_000400.3:c.1955_1963delinsTTACCTTCG , LRG_461t1:c.1955_1963delinsTTACCTTCG	NP_000391.1:p.Leu652=
XM_011526611.1:c.1877_1885delinsTTACCTTCG	XP_011524913.1:p.Leu626=
XM_011526611.2:c.1877_1885delinsTTACCTTCG	XP_011524913.1:p.Leu626=
XM_017026467.1:c.1832_1840delinsTTACCTTCG	XP_016881956.1:p.Leu611=
XR_001753633.2:n.2002_2010delinsTTACCTTCG
XR_001753634.2:n.1938_1946delinsTTACCTTCG
NM_000400.4:c.1955_1963delinsTTACCTTCG MANE Select	NP_000391.1:p.Leu652=