Canonical Allele Identifier: CA257623

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 16780
• ClinVar RCV Id: RCV000018269
• dbSNP Id: rs121913017
• gnomAD v4: 19-45352223-G-A
• MyVariant Identifiers: chr19:g.45855481G>A (hg19) ; chr19:g.45352223G>A (hg38)
• PubMed: PMID:7849702

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352223G>A , CM000681.2:g.45352223G>A	GRCh38
NC_000019.9:g.45855481G>A , CM000681.1:g.45855481G>A	GRCh37
NC_000019.8:g.50547321G>A	NCBI36
NG_007067.2:g.23365C>T , LRG_461:g.23365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2176C>T	ENSP00000375808.4:p.Gln726Ter
ENST00000682414.1:c.2176C>T	ENSP00000507019.1:p.Gln726Ter
ENST00000682508.1:n.2205C>T
ENST00000684218.1:c.*1434C>T	ENSP00000507804.1:n.*1434C>T
ENST00000684264.1:n.1732C>T
ENST00000684407.1:c.2053C>T	ENSP00000507775.1:p.Gln685Ter
ENST00000684458.1:c.*662C>T	ENSP00000508260.1:n.*662C>T
ENST00000684468.1:n.1888C>T
ENST00000391945.10:c.2176C>T MANE Select	ENSP00000375809.4:p.Gln726Ter
ENST00000646507.1:n.2273C>T
ENST00000391941.6:c.2104C>T	ENSP00000375805.2:p.Gln702Ter
ENST00000391942.6:n.1347C>T
ENST00000391944.7:c.1942C>T	ENSP00000375808.3:p.Gln648Ter
ENST00000391945.8:c.2176C>T	ENSP00000375809.3:p.Gln726Ter
ENST00000588652.5:n.2264C>T
NM_000400.3:c.2176C>T , LRG_461t1:c.2176C>T	NP_000391.1:p.Gln726Ter
XM_011526611.1:c.2098C>T	XP_011524913.1:p.Gln700Ter
XM_011526611.2:c.2098C>T	XP_011524913.1:p.Gln700Ter
XM_017026467.1:c.2053C>T	XP_016881956.1:p.Gln685Ter
XR_001753633.2:n.2223C>T
XR_001753634.2:n.2159C>T
NM_000400.4:c.2176C>T MANE Select	NP_000391.1:p.Gln726Ter