Canonical Allele Identifier: CA406363931

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352808-A-C
• MyVariant Identifiers: chr19:g.45856066A>C (hg19) ; chr19:g.45352808A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352808A>C , CM000681.2:g.45352808A>C	GRCh38
NC_000019.9:g.45856066A>C , CM000681.1:g.45856066A>C	GRCh37
NC_000019.8:g.50547906A>C	NCBI36
NG_007067.2:g.22780T>G , LRG_461:g.22780T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1840T>G	ENSP00000375808.4:p.Tyr614Asp
ENST00000682414.1:c.1840T>G	ENSP00000507019.1:p.Tyr614Asp
ENST00000682508.1:n.1869T>G
ENST00000684218.1:c.*1098T>G	ENSP00000507804.1:n.*1098T>G
ENST00000684264.1:n.1396T>G
ENST00000684407.1:c.1717T>G	ENSP00000507775.1:p.Tyr573Asp
ENST00000684458.1:c.*326T>G	ENSP00000508260.1:n.*326T>G
ENST00000684468.1:n.1552T>G
ENST00000391945.10:c.1840T>G MANE Select	ENSP00000375809.4:p.Tyr614Asp
ENST00000646507.1:n.1937T>G
ENST00000391941.6:c.1768T>G	ENSP00000375805.2:p.Tyr590Asp
ENST00000391942.6:n.1011T>G
ENST00000391944.7:c.1606T>G	ENSP00000375808.3:p.Tyr536Asp
ENST00000391945.8:c.1840T>G	ENSP00000375809.3:p.Tyr614Asp
ENST00000588652.5:n.1928T>G
NM_000400.3:c.1840T>G , LRG_461t1:c.1840T>G	NP_000391.1:p.Tyr614Asp
XM_011526611.1:c.1762T>G	XP_011524913.1:p.Tyr588Asp
XM_011526611.2:c.1762T>G	XP_011524913.1:p.Tyr588Asp
XM_017026467.1:c.1717T>G	XP_016881956.1:p.Tyr573Asp
XR_001753633.2:n.1887T>G
XR_001753634.2:n.1823T>G
NM_000400.4:c.1840T>G MANE Select	NP_000391.1:p.Tyr614Asp