Canonical Allele Identifier: CA406364269

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2630449
• ClinVar RCV Id: RCV004527887
• MyVariant Identifiers: chr19:g.45856499C>A (hg19) ; chr19:g.45353241C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353241C>A , CM000681.2:g.45353241C>A	GRCh38
NC_000019.9:g.45856499C>A , CM000681.1:g.45856499C>A	GRCh37
NC_000019.8:g.50548339C>A	NCBI36
NG_007067.2:g.22347G>T , LRG_461:g.22347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1758+1G>T	ENSP00000375808.4:n.1758+1G>T
ENST00000682414.1:c.1758+1G>T	ENSP00000507019.1:n.1758+1G>T
ENST00000682508.1:n.1787+1G>T
ENST00000684218.1:c.*1016+1G>T	ENSP00000507804.1:n.*1016+1G>T
ENST00000684264.1:n.1314+1G>T
ENST00000684407.1:c.1635+1G>T	ENSP00000507775.1:n.1635+1G>T
ENST00000684458.1:c.*244+1G>T	ENSP00000508260.1:n.*244+1G>T
ENST00000684468.1:n.1470+1G>T
ENST00000391945.10:c.1758+1G>T MANE Select	ENSP00000375809.4:n.1758+1G>T
ENST00000587376.6:c.817+1G>T
ENST00000646507.1:n.1855+1G>T
ENST00000391941.6:c.1686+1G>T	ENSP00000375805.2:n.1686+1G>T
ENST00000391942.6:n.929+1G>T
ENST00000391944.7:c.1524+1G>T	ENSP00000375808.3:n.1524+1G>T
ENST00000391945.8:c.1758+1G>T	ENSP00000375809.3:n.1758+1G>T
ENST00000588652.5:n.1846+1G>T
NM_000400.3:c.1758+1G>T , LRG_461t1:c.1758+1G>T	NP_000391.1:n.1758+1G>T
XM_011526611.1:c.1680+1G>T	XP_011524913.1:n.1680+1G>T
XR_935763.1:n.1742G>T
XM_011526611.2:c.1680+1G>T	XP_011524913.1:n.1680+1G>T
XM_017026467.1:c.1635+1G>T	XP_016881956.1:n.1635+1G>T
XR_001753633.2:n.1805+1G>T
XR_001753634.2:n.1741+1G>T
NM_000400.4:c.1758+1G>T MANE Select	NP_000391.1:n.1758+1G>T