Canonical Allele Identifier: CA406361038

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352239-G-C
• MyVariant Identifiers: chr19:g.45855497G>C (hg19) ; chr19:g.45352239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352239G>C , CM000681.2:g.45352239G>C	GRCh38
NC_000019.9:g.45855497G>C , CM000681.1:g.45855497G>C	GRCh37
NC_000019.8:g.50547337G>C	NCBI36
NG_007067.2:g.23349C>G , LRG_461:g.23349C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2160C>G	ENSP00000375808.4:p.Phe720Leu
ENST00000682414.1:c.2160C>G	ENSP00000507019.1:p.Phe720Leu
ENST00000682508.1:n.2189C>G
ENST00000684218.1:c.*1418C>G	ENSP00000507804.1:n.*1418C>G
ENST00000684264.1:n.1716C>G
ENST00000684407.1:c.2037C>G	ENSP00000507775.1:p.Phe679Leu
ENST00000684458.1:c.*646C>G	ENSP00000508260.1:n.*646C>G
ENST00000684468.1:n.1872C>G
ENST00000391945.10:c.2160C>G MANE Select	ENSP00000375809.4:p.Phe720Leu
ENST00000646507.1:n.2257C>G
ENST00000391941.6:c.2088C>G	ENSP00000375805.2:p.Phe696Leu
ENST00000391942.6:n.1331C>G
ENST00000391944.7:c.1926C>G	ENSP00000375808.3:p.Phe642Leu
ENST00000391945.8:c.2160C>G	ENSP00000375809.3:p.Phe720Leu
ENST00000588652.5:n.2248C>G
NM_000400.3:c.2160C>G , LRG_461t1:c.2160C>G	NP_000391.1:p.Phe720Leu
XM_011526611.1:c.2082C>G	XP_011524913.1:p.Phe694Leu
XM_011526611.2:c.2082C>G	XP_011524913.1:p.Phe694Leu
XM_017026467.1:c.2037C>G	XP_016881956.1:p.Phe679Leu
XR_001753633.2:n.2207C>G
XR_001753634.2:n.2143C>G
NM_000400.4:c.2160C>G MANE Select	NP_000391.1:p.Phe720Leu