Canonical Allele Identifier: CA9512943

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1415975
• ClinVar RCV Id: RCV001947789 ; RCV003471050 ; RCV003992580
• dbSNP Id: rs752510317
• ExAC: 19:45855814 G / A
• gnomAD v2: 19-45855814-G-A
• gnomAD v4: 19-45352556-G-A
• MyVariant Identifiers: chr19:g.45855814G>A (hg19) ; chr19:g.45352556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352556G>A , CM000681.2:g.45352556G>A	GRCh38
NC_000019.9:g.45855814G>A , CM000681.1:g.45855814G>A	GRCh37
NC_000019.8:g.50547654G>A	NCBI36
NG_007067.2:g.23032C>T , LRG_461:g.23032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1996C>T	ENSP00000375808.4:p.Arg666Trp
ENST00000682414.1:c.1996C>T	ENSP00000507019.1:p.Arg666Trp
ENST00000682508.1:n.2025C>T
ENST00000684218.1:c.*1254C>T	ENSP00000507804.1:n.*1254C>T
ENST00000684264.1:n.1552C>T
ENST00000684407.1:c.1873C>T	ENSP00000507775.1:p.Arg625Trp
ENST00000684458.1:c.*482C>T	ENSP00000508260.1:n.*482C>T
ENST00000684468.1:n.1708C>T
ENST00000391945.10:c.1996C>T MANE Select	ENSP00000375809.4:p.Arg666Trp
ENST00000646507.1:n.2093C>T
ENST00000391941.6:c.1924C>T	ENSP00000375805.2:p.Arg642Trp
ENST00000391942.6:n.1167C>T
ENST00000391944.7:c.1762C>T	ENSP00000375808.3:p.Arg588Trp
ENST00000391945.8:c.1996C>T	ENSP00000375809.3:p.Arg666Trp
ENST00000588652.5:n.2084C>T
NM_000400.3:c.1996C>T , LRG_461t1:c.1996C>T	NP_000391.1:p.Arg666Trp
XM_011526611.1:c.1918C>T	XP_011524913.1:p.Arg640Trp
XM_011526611.2:c.1918C>T	XP_011524913.1:p.Arg640Trp
XM_017026467.1:c.1873C>T	XP_016881956.1:p.Arg625Trp
XR_001753633.2:n.2043C>T
XR_001753634.2:n.1979C>T
NM_000400.4:c.1996C>T MANE Select	NP_000391.1:p.Arg666Trp