Canonical Allele Identifier: CA9512903

Gene: ERCC2

Linked Data

• dbSNP Id: rs758439420
• ExAC: 19:45855609 C / A
• gnomAD v2: 19-45855609-C-A
• gnomAD v3: 19-45352351-C-A
• gnomAD v4: 19-45352351-C-A
• MyVariant Identifiers: chr19:g.45855609C>A (hg19) ; chr19:g.45352351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352351C>A , CM000681.2:g.45352351C>A	GRCh38
NC_000019.9:g.45855609C>A , CM000681.1:g.45855609C>A	GRCh37
NC_000019.8:g.50547449C>A	NCBI36
NG_007067.2:g.23237G>T , LRG_461:g.23237G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2048G>T	ENSP00000375808.4:p.Arg683Leu
ENST00000682414.1:c.2048G>T	ENSP00000507019.1:p.Arg683Leu
ENST00000682508.1:n.2077G>T
ENST00000684218.1:c.*1306G>T	ENSP00000507804.1:n.*1306G>T
ENST00000684264.1:n.1604G>T
ENST00000684407.1:c.1925G>T	ENSP00000507775.1:p.Arg642Leu
ENST00000684458.1:c.*534G>T	ENSP00000508260.1:n.*534G>T
ENST00000684468.1:n.1760G>T
ENST00000391945.10:c.2048G>T MANE Select	ENSP00000375809.4:p.Arg683Leu
ENST00000646507.1:n.2145G>T
ENST00000391941.6:c.1976G>T	ENSP00000375805.2:p.Arg659Leu
ENST00000391942.6:n.1219G>T
ENST00000391944.7:c.1814G>T	ENSP00000375808.3:p.Arg605Leu
ENST00000391945.8:c.2048G>T	ENSP00000375809.3:p.Arg683Leu
ENST00000588652.5:n.2136G>T
NM_000400.3:c.2048G>T , LRG_461t1:c.2048G>T	NP_000391.1:p.Arg683Leu
XM_011526611.1:c.1970G>T	XP_011524913.1:p.Arg657Leu
XM_011526611.2:c.1970G>T	XP_011524913.1:p.Arg657Leu
XM_017026467.1:c.1925G>T	XP_016881956.1:p.Arg642Leu
XR_001753633.2:n.2095G>T
XR_001753634.2:n.2031G>T
NM_000400.4:c.2048G>T MANE Select	NP_000391.1:p.Arg683Leu