Canonical Allele Identifier: CA996294813

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971819026
• gnomAD v3: 19-45352103-CAGG-C
• gnomAD v4: 19-45352103-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352108_45352110del , CM000681.2:g.45352108_45352110del	GRCh38
NC_000019.9:g.45855366_45855368del , CM000681.1:g.45855366_45855368del	GRCh37
NC_000019.8:g.50547206_50547208del	NCBI36
NG_007067.2:g.23482_23484del , LRG_461:g.23482_23484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2293_2295del	ENSP00000375808.4:p.Pro765del
ENST00000682414.1:c.2190+103_2190+105del	ENSP00000507019.1:n.2190+103_2190+105del
ENST00000682508.1:n.2219+103_2219+105del
ENST00000684218.1:c.*1448+103_*1448+105del	ENSP00000507804.1:n.*1448+103_*1448+105del
ENST00000684264.1:n.1746+103_1746+105del
ENST00000684407.1:c.2067+103_2067+105del	ENSP00000507775.1:n.2067+103_2067+105del
ENST00000684458.1:c.*676+103_*676+105del	ENSP00000508260.1:n.*676+103_*676+105del
ENST00000684468.1:n.1902+103_1902+105del
ENST00000391945.10:c.2190+103_2190+105del MANE Select	ENSP00000375809.4:n.2190+103_2190+105del
ENST00000646507.1:n.2287+103_2287+105del
ENST00000391942.6:n.1361+103_1361+105del
ENST00000391944.7:c.1956+103_1956+105del	ENSP00000375808.3:n.1956+103_1956+105del
ENST00000391945.8:c.2190+103_2190+105del	ENSP00000375809.3:n.2190+103_2190+105del
ENST00000588652.5:n.2278+103_2278+105del
NM_000400.3:c.2190+103_2190+105del , LRG_461t1:c.2190+103_2190+105del	NP_000391.1:n.2190+103_2190+105del
XM_011526611.1:c.2112+103_2112+105del	XP_011524913.1:n.2112+103_2112+105del
XM_011526611.2:c.2112+103_2112+105del	XP_011524913.1:n.2112+103_2112+105del
XM_017026467.1:c.2067+103_2067+105del	XP_016881956.1:n.2067+103_2067+105del
XR_001753633.2:n.2237+103_2237+105del
XR_001753634.2:n.2173+103_2173+105del
NM_000400.4:c.2190+103_2190+105del MANE Select	NP_000391.1:n.2190+103_2190+105del