Canonical Allele Identifier: CA2962742399

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352224_45352225del , CM000681.2:g.45352224_45352225del	GRCh38
NC_000019.9:g.45855482_45855483del , CM000681.1:g.45855482_45855483del	GRCh37
NC_000019.8:g.50547322_50547323del	NCBI36
NG_007067.2:g.23365_23366del , LRG_461:g.23365_23366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2176_2177del	ENSP00000375808.4:p.Gln726AlafsTer?
ENST00000682414.1:c.2176_2177del	ENSP00000507019.1:p.Gln726AlafsTer?
ENST00000682508.1:n.2205_2206del
ENST00000684218.1:c.*1434_*1435del	ENSP00000507804.1:n.*1434_*1435del
ENST00000684264.1:n.1732_1733del
ENST00000684407.1:c.2053_2054del	ENSP00000507775.1:p.Gln685AlafsTer?
ENST00000684458.1:c.*662_*663del	ENSP00000508260.1:n.*662_*663del
ENST00000684468.1:n.1888_1889del
ENST00000391945.10:c.2176_2177del MANE Select	ENSP00000375809.4:p.Gln726AlafsTer?
ENST00000646507.1:n.2273_2274del
ENST00000391941.6:c.2104_2105del	ENSP00000375805.2:p.Gln702AlafsTer?
ENST00000391942.6:n.1347_1348del
ENST00000391944.7:c.1942_1943del	ENSP00000375808.3:p.Gln648AlafsTer?
ENST00000391945.8:c.2176_2177del	ENSP00000375809.3:p.Gln726AlafsTer?
ENST00000588652.5:n.2264_2265del
NM_000400.3:c.2176_2177del , LRG_461t1:c.2176_2177del	NP_000391.1:p.Gln726AlafsTer?
XM_011526611.1:c.2098_2099del	XP_011524913.1:p.Gln700AlafsTer?
XM_011526611.2:c.2098_2099del	XP_011524913.1:p.Gln700AlafsTer?
XM_017026467.1:c.2053_2054del	XP_016881956.1:p.Gln685AlafsTer?
XR_001753633.2:n.2223_2224del
XR_001753634.2:n.2159_2160del
NM_000400.4:c.2176_2177del MANE Select	NP_000391.1:p.Gln726AlafsTer?