Canonical Allele Identifier: CA633479916

Gene: ERCC2

Linked Data

• dbSNP Id: rs1207710213
• gnomAD v2: 19-45855634-G-A
• MyVariant Identifiers: chr19:g.45855634G>A (hg19) ; chr19:g.45352376G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352376G>A , CM000681.2:g.45352376G>A	GRCh38
NC_000019.9:g.45855634G>A , CM000681.1:g.45855634G>A	GRCh37
NC_000019.8:g.50547474G>A	NCBI36
NG_007067.2:g.23212C>T , LRG_461:g.23212C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-24C>T	ENSP00000375808.4:n.2047-24C>T
ENST00000682414.1:c.2047-24C>T	ENSP00000507019.1:n.2047-24C>T
ENST00000682508.1:n.2076-24C>T
ENST00000684218.1:c.*1305-24C>T	ENSP00000507804.1:n.*1305-24C>T
ENST00000684264.1:n.1603-24C>T
ENST00000684407.1:c.1924-24C>T	ENSP00000507775.1:n.1924-24C>T
ENST00000684458.1:c.*533-24C>T	ENSP00000508260.1:n.*533-24C>T
ENST00000684468.1:n.1759-24C>T
ENST00000391945.10:c.2047-24C>T MANE Select	ENSP00000375809.4:n.2047-24C>T
ENST00000646507.1:n.2144-24C>T
ENST00000391941.6:c.1975-24C>T	ENSP00000375805.2:n.1975-24C>T
ENST00000391942.6:n.1218-24C>T
ENST00000391944.7:c.1813-24C>T	ENSP00000375808.3:n.1813-24C>T
ENST00000391945.8:c.2047-24C>T	ENSP00000375809.3:n.2047-24C>T
ENST00000588652.5:n.2135-24C>T
NM_000400.3:c.2047-24C>T , LRG_461t1:c.2047-24C>T	NP_000391.1:n.2047-24C>T
XM_011526611.1:c.1969-24C>T	XP_011524913.1:n.1969-24C>T
XM_011526611.2:c.1969-24C>T	XP_011524913.1:n.1969-24C>T
XM_017026467.1:c.1924-24C>T	XP_016881956.1:n.1924-24C>T
XR_001753633.2:n.2094-24C>T
XR_001753634.2:n.2030-24C>T
NM_000400.4:c.2047-24C>T MANE Select	NP_000391.1:n.2047-24C>T