Canonical Allele Identifier: CA507818758

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352779-G-C
• MyVariant Identifiers: chr19:g.45856037G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352779G>C , CM000681.2:g.45352779G>C	GRCh38
NC_000019.9:g.45856037G>C , CM000681.1:g.45856037G>C	GRCh37
NC_000019.8:g.50547877G>C	NCBI36
NG_007067.2:g.22809C>G , LRG_461:g.22809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1869C>G	ENSP00000375808.4:p.Val623=
ENST00000682414.1:c.1869C>G	ENSP00000507019.1:p.Val623=
ENST00000682508.1:n.1898C>G
ENST00000684218.1:c.*1127C>G	ENSP00000507804.1:n.*1127C>G
ENST00000684264.1:n.1425C>G
ENST00000684407.1:c.1746C>G	ENSP00000507775.1:p.Val582=
ENST00000684458.1:c.*355C>G	ENSP00000508260.1:n.*355C>G
ENST00000684468.1:n.1581C>G
ENST00000391945.10:c.1869C>G MANE Select	ENSP00000375809.4:p.Val623=
ENST00000646507.1:n.1966C>G
ENST00000391941.6:c.1797C>G	ENSP00000375805.2:p.Val599=
ENST00000391942.6:n.1040C>G
ENST00000391944.7:c.1635C>G	ENSP00000375808.3:p.Val545=
ENST00000391945.8:c.1869C>G	ENSP00000375809.3:p.Val623=
ENST00000588652.5:n.1957C>G
NM_000400.3:c.1869C>G , LRG_461t1:c.1869C>G	NP_000391.1:p.Val623=
XM_011526611.1:c.1791C>G	XP_011524913.1:p.Val597=
XM_011526611.2:c.1791C>G	XP_011524913.1:p.Val597=
XM_017026467.1:c.1746C>G	XP_016881956.1:p.Val582=
XR_001753633.2:n.1916C>G
XR_001753634.2:n.1852C>G
NM_000400.4:c.1869C>G MANE Select	NP_000391.1:p.Val623=