Canonical Allele Identifier: CA308948309

Gene: ERCC2

Linked Data

• dbSNP Id: rs574048291
• gnomAD v2: 19-45855373-CAGGCTG-C
• gnomAD v3: 19-45352115-CAGGCTG-C
• gnomAD v4: 19-45352115-CAGGCTG-C
• MyVariant Identifiers: chr19:g.45855374_45855379del (hg19) ; chr19:g.45352116_45352121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352119_45352124del , CM000681.2:g.45352119_45352124del	GRCh38
NC_000019.9:g.45855377_45855382del , CM000681.1:g.45855377_45855382del	GRCh37
NC_000019.8:g.50547217_50547222del	NCBI36
NG_007067.2:g.23467_23472del , LRG_461:g.23467_23472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2278_2283del	ENSP00000375808.4:p.Gln760_Pro761del
ENST00000682414.1:c.2190+88_2190+93del	ENSP00000507019.1:n.2190+88_2190+93del
ENST00000682508.1:n.2219+88_2219+93del
ENST00000684218.1:c.*1448+88_*1448+93del	ENSP00000507804.1:n.*1448+88_*1448+93del
ENST00000684264.1:n.1746+88_1746+93del
ENST00000684407.1:c.2067+88_2067+93del	ENSP00000507775.1:n.2067+88_2067+93del
ENST00000684458.1:c.*676+88_*676+93del	ENSP00000508260.1:n.*676+88_*676+93del
ENST00000684468.1:n.1902+88_1902+93del
ENST00000391945.10:c.2190+88_2190+93del MANE Select	ENSP00000375809.4:n.2190+88_2190+93del
ENST00000646507.1:n.2287+88_2287+93del
ENST00000391942.6:n.1361+88_1361+93del
ENST00000391944.7:c.1956+88_1956+93del	ENSP00000375808.3:n.1956+88_1956+93del
ENST00000391945.8:c.2190+88_2190+93del	ENSP00000375809.3:n.2190+88_2190+93del
ENST00000588652.5:n.2278+88_2278+93del
NM_000400.3:c.2190+88_2190+93del , LRG_461t1:c.2190+88_2190+93del	NP_000391.1:n.2190+88_2190+93del
XM_011526611.1:c.2112+88_2112+93del	XP_011524913.1:n.2112+88_2112+93del
XM_011526611.2:c.2112+88_2112+93del	XP_011524913.1:n.2112+88_2112+93del
XM_017026467.1:c.2067+88_2067+93del	XP_016881956.1:n.2067+88_2067+93del
XR_001753633.2:n.2237+88_2237+93del
XR_001753634.2:n.2173+88_2173+93del
NM_000400.4:c.2190+88_2190+93del MANE Select	NP_000391.1:n.2190+88_2190+93del