Canonical Allele Identifier: CA9513000

Gene: ERCC2

Linked Data

• dbSNP Id: rs759650030
• ExAC: 19:45855980 T / C
• gnomAD v2: 19-45855980-T-C
• gnomAD v4: 19-45352722-T-C
• MyVariant Identifiers: chr19:g.45855980T>C (hg19) ; chr19:g.45352722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352722T>C , CM000681.2:g.45352722T>C	GRCh38
NC_000019.9:g.45855980T>C , CM000681.1:g.45855980T>C	GRCh37
NC_000019.8:g.50547820T>C	NCBI36
NG_007067.2:g.22866A>G , LRG_461:g.22866A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1902+24A>G	ENSP00000375808.4:n.1902+24A>G
ENST00000682414.1:c.1902+24A>G	ENSP00000507019.1:n.1902+24A>G
ENST00000682508.1:n.1931+24A>G
ENST00000684218.1:c.*1160+24A>G	ENSP00000507804.1:n.*1160+24A>G
ENST00000684264.1:n.1458+24A>G
ENST00000684407.1:c.1779+24A>G	ENSP00000507775.1:n.1779+24A>G
ENST00000684458.1:c.*388+24A>G	ENSP00000508260.1:n.*388+24A>G
ENST00000684468.1:n.1614+24A>G
ENST00000391945.10:c.1902+24A>G MANE Select	ENSP00000375809.4:n.1902+24A>G
ENST00000646507.1:n.1999+24A>G
ENST00000391941.6:c.1830+24A>G	ENSP00000375805.2:n.1830+24A>G
ENST00000391942.6:n.1073+24A>G
ENST00000391944.7:c.1668+24A>G	ENSP00000375808.3:n.1668+24A>G
ENST00000391945.8:c.1902+24A>G	ENSP00000375809.3:n.1902+24A>G
ENST00000588652.5:n.1990+24A>G
NM_000400.3:c.1902+24A>G , LRG_461t1:c.1902+24A>G	NP_000391.1:n.1902+24A>G
XM_011526611.1:c.1824+24A>G	XP_011524913.1:n.1824+24A>G
XM_011526611.2:c.1824+24A>G	XP_011524913.1:n.1824+24A>G
XM_017026467.1:c.1779+24A>G	XP_016881956.1:n.1779+24A>G
XR_001753633.2:n.1949+24A>G
XR_001753634.2:n.1885+24A>G
NM_000400.4:c.1902+24A>G MANE Select	NP_000391.1:n.1902+24A>G