Canonical Allele Identifier: CA406364281

Gene: ERCC2

Linked Data

• dbSNP Id: rs750364723
• gnomAD v3: 19-45353243-T-G
• gnomAD v4: 19-45353243-T-G
• MyVariant Identifiers: chr19:g.45856501T>G (hg19) ; chr19:g.45353243T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353243T>G , CM000681.2:g.45353243T>G	GRCh38
NC_000019.9:g.45856501T>G , CM000681.1:g.45856501T>G	GRCh37
NC_000019.8:g.50548341T>G	NCBI36
NG_007067.2:g.22345A>C , LRG_461:g.22345A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1757A>C	ENSP00000375808.4:p.Glu586Ala
ENST00000682414.1:c.1757A>C	ENSP00000507019.1:p.Glu586Ala
ENST00000682508.1:n.1786A>C
ENST00000684218.1:c.*1015A>C	ENSP00000507804.1:n.*1015A>C
ENST00000684264.1:n.1313A>C
ENST00000684407.1:c.1634A>C	ENSP00000507775.1:p.Glu545Ala
ENST00000684458.1:c.*243A>C	ENSP00000508260.1:n.*243A>C
ENST00000684468.1:n.1469A>C
ENST00000391945.10:c.1757A>C MANE Select	ENSP00000375809.4:p.Glu586Ala
ENST00000587376.6:c.816A>C
ENST00000646507.1:n.1854A>C
ENST00000391941.6:c.1685A>C	ENSP00000375805.2:p.Glu562Ala
ENST00000391942.6:n.928A>C
ENST00000391944.7:c.1523A>C	ENSP00000375808.3:p.Glu508Ala
ENST00000391945.8:c.1757A>C	ENSP00000375809.3:p.Glu586Ala
ENST00000587376.5:c.816A>C
ENST00000588652.5:n.1845A>C
NM_000400.3:c.1757A>C , LRG_461t1:c.1757A>C	NP_000391.1:p.Glu586Ala
XM_011526611.1:c.1679A>C	XP_011524913.1:p.Glu560Ala
XR_935763.1:n.1740A>C
XM_011526611.2:c.1679A>C	XP_011524913.1:p.Glu560Ala
XM_017026467.1:c.1634A>C	XP_016881956.1:p.Glu545Ala
XR_001753633.2:n.1804A>C
XR_001753634.2:n.1740A>C
NM_000400.4:c.1757A>C MANE Select	NP_000391.1:p.Glu586Ala