Canonical Allele Identifier: CA308966420

Gene: ERCC2

Linked Data

• dbSNP Id: rs1012733352
• MyVariant Identifiers: chr19:g.45867150G>C (hg19) ; chr19:g.45363892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363892G>C , CM000681.2:g.45363892G>C	GRCh38
NC_000019.9:g.45867150G>C , CM000681.1:g.45867150G>C	GRCh37
NC_000019.8:g.50558990G>C	NCBI36
NG_007067.2:g.11696C>G , LRG_461:g.11696C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.969C>G	ENSP00000375808.4:p.Ile323Met
ENST00000682414.1:c.969C>G	ENSP00000507019.1:p.Ile323Met
ENST00000682508.1:n.998C>G
ENST00000684218.1:c.*227C>G	ENSP00000507804.1:n.*227C>G
ENST00000684407.1:c.846C>G	ENSP00000507775.1:p.Ile282Met
ENST00000684458.1:c.969C>G	ENSP00000508260.1:p.Ile323Met
ENST00000391945.10:c.969C>G MANE Select	ENSP00000375809.4:p.Ile323Met
ENST00000587376.6:c.92C>G
ENST00000646507.1:n.1066C>G
ENST00000391941.6:c.897C>G	ENSP00000375805.2:p.Ile299Met
ENST00000391944.7:c.735C>G	ENSP00000375808.3:p.Ile245Met
ENST00000391945.8:c.969C>G	ENSP00000375809.3:p.Ile323Met
ENST00000485403.6:c.897C>G	ENSP00000431229.2:p.Ile299Met
ENST00000587376.5:c.92C>G
NM_000400.3:c.969C>G , LRG_461t1:c.969C>G	NP_000391.1:p.Ile323Met
NM_001130867.1:c.897C>G	NP_001124339.1:p.Ile299Met
XM_011526611.1:c.891C>G	XP_011524913.1:p.Ile297Met
XR_935763.1:n.1016C>G
XM_011526611.2:c.891C>G	XP_011524913.1:p.Ile297Met
XM_017026467.1:c.846C>G	XP_016881956.1:p.Ile282Met
XR_001753633.2:n.1016C>G
XR_001753634.2:n.1016C>G
NM_000400.4:c.969C>G MANE Select	NP_000391.1:p.Ile323Met
NM_001130867.2:c.897C>G	NP_001124339.1:p.Ile299Met