Canonical Allele Identifier: CA2740096930

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3009656
• ClinVar RCV Id: RCV003864767

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352734A>G , CM000681.2:g.45352734A>G	GRCh38
NC_000019.9:g.45855992A>G , CM000681.1:g.45855992A>G	GRCh37
NC_000019.8:g.50547832A>G	NCBI36
NG_007067.2:g.22854T>C , LRG_461:g.22854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1902+12T>C	ENSP00000375808.4:n.1902+12T>C
ENST00000682414.1:c.1902+12T>C	ENSP00000507019.1:n.1902+12T>C
ENST00000682508.1:n.1931+12T>C
ENST00000684218.1:c.*1160+12T>C	ENSP00000507804.1:n.*1160+12T>C
ENST00000684264.1:n.1458+12T>C
ENST00000684407.1:c.1779+12T>C	ENSP00000507775.1:n.1779+12T>C
ENST00000684458.1:c.*388+12T>C	ENSP00000508260.1:n.*388+12T>C
ENST00000684468.1:n.1614+12T>C
ENST00000391945.10:c.1902+12T>C MANE Select	ENSP00000375809.4:n.1902+12T>C
ENST00000646507.1:n.1999+12T>C
ENST00000391941.6:c.1830+12T>C	ENSP00000375805.2:n.1830+12T>C
ENST00000391942.6:n.1073+12T>C
ENST00000391944.7:c.1668+12T>C	ENSP00000375808.3:n.1668+12T>C
ENST00000391945.8:c.1902+12T>C	ENSP00000375809.3:n.1902+12T>C
ENST00000588652.5:n.1990+12T>C
NM_000400.3:c.1902+12T>C , LRG_461t1:c.1902+12T>C	NP_000391.1:n.1902+12T>C
XM_011526611.1:c.1824+12T>C	XP_011524913.1:n.1824+12T>C
XM_011526611.2:c.1824+12T>C	XP_011524913.1:n.1824+12T>C
XM_017026467.1:c.1779+12T>C	XP_016881956.1:n.1779+12T>C
XR_001753633.2:n.1949+12T>C
XR_001753634.2:n.1885+12T>C
NM_000400.4:c.1902+12T>C MANE Select	NP_000391.1:n.1902+12T>C