Canonical Allele Identifier: CA406363790

Gene: ERCC2

Linked Data

• gnomAD v3: 19-45352774-T-G
• gnomAD v4: 19-45352774-T-G
• MyVariant Identifiers: chr19:g.45856032T>G (hg19) ; chr19:g.45352774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352774T>G , CM000681.2:g.45352774T>G	GRCh38
NC_000019.9:g.45856032T>G , CM000681.1:g.45856032T>G	GRCh37
NC_000019.8:g.50547872T>G	NCBI36
NG_007067.2:g.22814A>C , LRG_461:g.22814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1874A>C	ENSP00000375808.4:p.Tyr625Ser
ENST00000682414.1:c.1874A>C	ENSP00000507019.1:p.Tyr625Ser
ENST00000682508.1:n.1903A>C
ENST00000684218.1:c.*1132A>C	ENSP00000507804.1:n.*1132A>C
ENST00000684264.1:n.1430A>C
ENST00000684407.1:c.1751A>C	ENSP00000507775.1:p.Tyr584Ser
ENST00000684458.1:c.*360A>C	ENSP00000508260.1:n.*360A>C
ENST00000684468.1:n.1586A>C
ENST00000391945.10:c.1874A>C MANE Select	ENSP00000375809.4:p.Tyr625Ser
ENST00000646507.1:n.1971A>C
ENST00000391941.6:c.1802A>C	ENSP00000375805.2:p.Tyr601Ser
ENST00000391942.6:n.1045A>C
ENST00000391944.7:c.1640A>C	ENSP00000375808.3:p.Tyr547Ser
ENST00000391945.8:c.1874A>C	ENSP00000375809.3:p.Tyr625Ser
ENST00000588652.5:n.1962A>C
NM_000400.3:c.1874A>C , LRG_461t1:c.1874A>C	NP_000391.1:p.Tyr625Ser
XM_011526611.1:c.1796A>C	XP_011524913.1:p.Tyr599Ser
XM_011526611.2:c.1796A>C	XP_011524913.1:p.Tyr599Ser
XM_017026467.1:c.1751A>C	XP_016881956.1:p.Tyr584Ser
XR_001753633.2:n.1921A>C
XR_001753634.2:n.1857A>C
NM_000400.4:c.1874A>C MANE Select	NP_000391.1:p.Tyr625Ser