Canonical Allele Identifier: CA406373872

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1762378
• ClinVar RCV Id: RCV002427874
• MyVariant Identifiers: chr19:g.45867374G>C (hg19) ; chr19:g.45364116G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364116G>C , CM000681.2:g.45364116G>C	GRCh38
NC_000019.9:g.45867374G>C , CM000681.1:g.45867374G>C	GRCh37
NC_000019.8:g.50559214G>C	NCBI36
NG_007067.2:g.11472C>G , LRG_461:g.11472C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.819C>G	ENSP00000375808.4:p.Ile273Met
ENST00000682414.1:c.819C>G	ENSP00000507019.1:p.Ile273Met
ENST00000682508.1:n.848C>G
ENST00000684218.1:c.*77C>G	ENSP00000507804.1:n.*77C>G
ENST00000684407.1:c.696C>G	ENSP00000507775.1:p.Ile232Met
ENST00000684458.1:c.819C>G	ENSP00000508260.1:p.Ile273Met
ENST00000391945.10:c.819C>G MANE Select	ENSP00000375809.4:p.Ile273Met
ENST00000586131.6:c.747C>G	ENSP00000464887.1:p.Ile249Met
ENST00000646507.1:n.916C>G
ENST00000391941.6:c.747C>G	ENSP00000375805.2:p.Ile249Met
ENST00000391944.7:c.585C>G	ENSP00000375808.3:p.Ile195Met
ENST00000391945.8:c.819C>G	ENSP00000375809.3:p.Ile273Met
ENST00000485403.6:c.747C>G	ENSP00000431229.2:p.Ile249Met
ENST00000586131.5:c.747C>G	ENSP00000464887.1:p.Ile249Met
ENST00000586737.5:n.456C>G
ENST00000591309.5:c.*77C>G	ENSP00000465207.1:n.*77C>G
NM_000400.3:c.819C>G , LRG_461t1:c.819C>G	NP_000391.1:p.Ile273Met
NM_001130867.1:c.747C>G	NP_001124339.1:p.Ile249Met
XM_011526611.1:c.741C>G	XP_011524913.1:p.Ile247Met
XR_935763.1:n.866C>G
XM_011526611.2:c.741C>G	XP_011524913.1:p.Ile247Met
XM_017026467.1:c.696C>G	XP_016881956.1:p.Ile232Met
XR_001753633.2:n.866C>G
XR_001753634.2:n.866C>G
NM_000400.4:c.819C>G MANE Select	NP_000391.1:p.Ile273Met
NM_001130867.2:c.747C>G	NP_001124339.1:p.Ile249Met