Canonical Allele Identifier: CA308950373

Gene: ERCC2

Linked Data

• dbSNP Id: rs920242540
• gnomAD v3: 19-45352390-T-C
• gnomAD v4: 19-45352390-T-C
• MyVariant Identifiers: chr19:g.45855648T>C (hg19) ; chr19:g.45352390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352390T>C , CM000681.2:g.45352390T>C	GRCh38
NC_000019.9:g.45855648T>C , CM000681.1:g.45855648T>C	GRCh37
NC_000019.8:g.50547488T>C	NCBI36
NG_007067.2:g.23198A>G , LRG_461:g.23198A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2047-38A>G	ENSP00000375808.4:n.2047-38A>G
ENST00000682414.1:c.2047-38A>G	ENSP00000507019.1:n.2047-38A>G
ENST00000682508.1:n.2076-38A>G
ENST00000684218.1:c.*1305-38A>G	ENSP00000507804.1:n.*1305-38A>G
ENST00000684264.1:n.1603-38A>G
ENST00000684407.1:c.1924-38A>G	ENSP00000507775.1:n.1924-38A>G
ENST00000684458.1:c.*533-38A>G	ENSP00000508260.1:n.*533-38A>G
ENST00000684468.1:n.1759-38A>G
ENST00000391945.10:c.2047-38A>G MANE Select	ENSP00000375809.4:n.2047-38A>G
ENST00000646507.1:n.2144-38A>G
ENST00000391941.6:c.1975-38A>G	ENSP00000375805.2:n.1975-38A>G
ENST00000391942.6:n.1218-38A>G
ENST00000391944.7:c.1813-38A>G	ENSP00000375808.3:n.1813-38A>G
ENST00000391945.8:c.2047-38A>G	ENSP00000375809.3:n.2047-38A>G
ENST00000588652.5:n.2135-38A>G
NM_000400.3:c.2047-38A>G , LRG_461t1:c.2047-38A>G	NP_000391.1:n.2047-38A>G
XM_011526611.1:c.1969-38A>G	XP_011524913.1:n.1969-38A>G
XM_011526611.2:c.1969-38A>G	XP_011524913.1:n.1969-38A>G
XM_017026467.1:c.1924-38A>G	XP_016881956.1:n.1924-38A>G
XR_001753633.2:n.2094-38A>G
XR_001753634.2:n.2030-38A>G
NM_000400.4:c.2047-38A>G MANE Select	NP_000391.1:n.2047-38A>G