Canonical Allele Identifier: CA9513004

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1555074
• ClinVar RCV Id: RCV002192701
• dbSNP Id: rs767619279
• ExAC: 19:45855987 GAGAC / G
• gnomAD v2: 19-45855987-GAGAC-G
• gnomAD v4: 19-45352729-GAGAC-G
• MyVariant Identifiers: chr19:g.45855988_45855991del (hg19) ; chr19:g.45352730_45352733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352733_45352736del , CM000681.2:g.45352733_45352736del	GRCh38
NC_000019.9:g.45855991_45855994del , CM000681.1:g.45855991_45855994del	GRCh37
NC_000019.8:g.50547831_50547834del	NCBI36
NG_007067.2:g.22855_22858del , LRG_461:g.22855_22858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1902+13_1902+16del	ENSP00000375808.4:n.1902+13_1902+16del
ENST00000682414.1:c.1902+13_1902+16del	ENSP00000507019.1:n.1902+13_1902+16del
ENST00000682508.1:n.1931+13_1931+16del
ENST00000684218.1:c.*1160+13_*1160+16del	ENSP00000507804.1:n.*1160+13_*1160+16del
ENST00000684264.1:n.1458+13_1458+16del
ENST00000684407.1:c.1779+13_1779+16del	ENSP00000507775.1:n.1779+13_1779+16del
ENST00000684458.1:c.*388+13_*388+16del	ENSP00000508260.1:n.*388+13_*388+16del
ENST00000684468.1:n.1614+13_1614+16del
ENST00000391945.10:c.1902+13_1902+16del MANE Select	ENSP00000375809.4:n.1902+13_1902+16del
ENST00000646507.1:n.1999+13_1999+16del
ENST00000391941.6:c.1830+13_1830+16del	ENSP00000375805.2:n.1830+13_1830+16del
ENST00000391942.6:n.1073+13_1073+16del
ENST00000391944.7:c.1668+13_1668+16del	ENSP00000375808.3:n.1668+13_1668+16del
ENST00000391945.8:c.1902+13_1902+16del	ENSP00000375809.3:n.1902+13_1902+16del
ENST00000588652.5:n.1990+13_1990+16del
NM_000400.3:c.1902+13_1902+16del , LRG_461t1:c.1902+13_1902+16del	NP_000391.1:n.1902+13_1902+16del
XM_011526611.1:c.1824+13_1824+16del	XP_011524913.1:n.1824+13_1824+16del
XM_011526611.2:c.1824+13_1824+16del	XP_011524913.1:n.1824+13_1824+16del
XM_017026467.1:c.1779+13_1779+16del	XP_016881956.1:n.1779+13_1779+16del
XR_001753633.2:n.1949+13_1949+16del
XR_001753634.2:n.1885+13_1885+16del
NM_000400.4:c.1902+13_1902+16del MANE Select	NP_000391.1:n.1902+13_1902+16del