Canonical Allele Identifier: CA406362192

Gene: ERCC2

Linked Data

• dbSNP Id: rs1427190652
• gnomAD v2: 19-45855538-T-C
• gnomAD v4: 19-45352280-T-C
• MyVariant Identifiers: chr19:g.45855538T>C (hg19) ; chr19:g.45352280T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352280T>C , CM000681.2:g.45352280T>C	GRCh38
NC_000019.9:g.45855538T>C , CM000681.1:g.45855538T>C	GRCh37
NC_000019.8:g.50547378T>C	NCBI36
NG_007067.2:g.23308A>G , LRG_461:g.23308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2119A>G	ENSP00000375808.4:p.Asn707Asp
ENST00000682414.1:c.2119A>G	ENSP00000507019.1:p.Asn707Asp
ENST00000682508.1:n.2148A>G
ENST00000684218.1:c.*1377A>G	ENSP00000507804.1:n.*1377A>G
ENST00000684264.1:n.1675A>G
ENST00000684407.1:c.1996A>G	ENSP00000507775.1:p.Asn666Asp
ENST00000684458.1:c.*605A>G	ENSP00000508260.1:n.*605A>G
ENST00000684468.1:n.1831A>G
ENST00000391945.10:c.2119A>G MANE Select	ENSP00000375809.4:p.Asn707Asp
ENST00000646507.1:n.2216A>G
ENST00000391941.6:c.2047A>G	ENSP00000375805.2:p.Asn683Asp
ENST00000391942.6:n.1290A>G
ENST00000391944.7:c.1885A>G	ENSP00000375808.3:p.Asn629Asp
ENST00000391945.8:c.2119A>G	ENSP00000375809.3:p.Asn707Asp
ENST00000588652.5:n.2207A>G
NM_000400.3:c.2119A>G , LRG_461t1:c.2119A>G	NP_000391.1:p.Asn707Asp
XM_011526611.1:c.2041A>G	XP_011524913.1:p.Asn681Asp
XM_011526611.2:c.2041A>G	XP_011524913.1:p.Asn681Asp
XM_017026467.1:c.1996A>G	XP_016881956.1:p.Asn666Asp
XR_001753633.2:n.2166A>G
XR_001753634.2:n.2102A>G
NM_000400.4:c.2119A>G MANE Select	NP_000391.1:p.Asn707Asp