Canonical Allele Identifier: CA406362546

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352349-A-T
• MyVariant Identifiers: chr19:g.45855607A>T (hg19) ; chr19:g.45352349A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352349A>T , CM000681.2:g.45352349A>T	GRCh38
NC_000019.9:g.45855607A>T , CM000681.1:g.45855607A>T	GRCh37
NC_000019.8:g.50547447A>T	NCBI36
NG_007067.2:g.23239T>A , LRG_461:g.23239T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2050T>A	ENSP00000375808.4:p.Phe684Ile
ENST00000682414.1:c.2050T>A	ENSP00000507019.1:p.Phe684Ile
ENST00000682508.1:n.2079T>A
ENST00000684218.1:c.*1308T>A	ENSP00000507804.1:n.*1308T>A
ENST00000684264.1:n.1606T>A
ENST00000684407.1:c.1927T>A	ENSP00000507775.1:p.Phe643Ile
ENST00000684458.1:c.*536T>A	ENSP00000508260.1:n.*536T>A
ENST00000684468.1:n.1762T>A
ENST00000391945.10:c.2050T>A MANE Select	ENSP00000375809.4:p.Phe684Ile
ENST00000646507.1:n.2147T>A
ENST00000391941.6:c.1978T>A	ENSP00000375805.2:p.Phe660Ile
ENST00000391942.6:n.1221T>A
ENST00000391944.7:c.1816T>A	ENSP00000375808.3:p.Phe606Ile
ENST00000391945.8:c.2050T>A	ENSP00000375809.3:p.Phe684Ile
ENST00000588652.5:n.2138T>A
NM_000400.3:c.2050T>A , LRG_461t1:c.2050T>A	NP_000391.1:p.Phe684Ile
XM_011526611.1:c.1972T>A	XP_011524913.1:p.Phe658Ile
XM_011526611.2:c.1972T>A	XP_011524913.1:p.Phe658Ile
XM_017026467.1:c.1927T>A	XP_016881956.1:p.Phe643Ile
XR_001753633.2:n.2097T>A
XR_001753634.2:n.2033T>A
NM_000400.4:c.2050T>A MANE Select	NP_000391.1:p.Phe684Ile