Canonical Allele Identifier: CA2585785494

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2978707
• ClinVar RCV Id: RCV003839353
• gnomAD v4: 19-45352367-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352368_45352369del , CM000681.2:g.45352368_45352369del	GRCh38
NC_000019.9:g.45855626_45855627del , CM000681.1:g.45855626_45855627del	GRCh37
NC_000019.8:g.50547466_50547467del	NCBI36
NG_007067.2:g.23219_23220del , LRG_461:g.23219_23220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-17_2047-16del	ENSP00000375808.4:n.2047-17_2047-16del
ENST00000682414.1:c.2047-17_2047-16del	ENSP00000507019.1:n.2047-17_2047-16del
ENST00000682508.1:n.2076-17_2076-16del
ENST00000684218.1:c.*1305-17_*1305-16del	ENSP00000507804.1:n.*1305-17_*1305-16del
ENST00000684264.1:n.1603-17_1603-16del
ENST00000684407.1:c.1924-17_1924-16del	ENSP00000507775.1:n.1924-17_1924-16del
ENST00000684458.1:c.*533-17_*533-16del	ENSP00000508260.1:n.*533-17_*533-16del
ENST00000684468.1:n.1759-17_1759-16del
ENST00000391945.10:c.2047-17_2047-16del MANE Select	ENSP00000375809.4:n.2047-17_2047-16del
ENST00000646507.1:n.2144-17_2144-16del
ENST00000391941.6:c.1975-17_1975-16del	ENSP00000375805.2:n.1975-17_1975-16del
ENST00000391942.6:n.1218-17_1218-16del
ENST00000391944.7:c.1813-17_1813-16del	ENSP00000375808.3:n.1813-17_1813-16del
ENST00000391945.8:c.2047-17_2047-16del	ENSP00000375809.3:n.2047-17_2047-16del
ENST00000588652.5:n.2135-17_2135-16del
NM_000400.3:c.2047-17_2047-16del , LRG_461t1:c.2047-17_2047-16del	NP_000391.1:n.2047-17_2047-16del
XM_011526611.1:c.1969-17_1969-16del	XP_011524913.1:n.1969-17_1969-16del
XM_011526611.2:c.1969-17_1969-16del	XP_011524913.1:n.1969-17_1969-16del
XM_017026467.1:c.1924-17_1924-16del	XP_016881956.1:n.1924-17_1924-16del
XR_001753633.2:n.2094-17_2094-16del
XR_001753634.2:n.2030-17_2030-16del
NM_000400.4:c.2047-17_2047-16del MANE Select	NP_000391.1:n.2047-17_2047-16del