Canonical Allele Identifier: CA2338388817

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971839276
• gnomAD v4: 19-45352426-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352426C>A , CM000681.2:g.45352426C>A	GRCh38
NC_000019.9:g.45855684C>A , CM000681.1:g.45855684C>A	GRCh37
NC_000019.8:g.50547524C>A	NCBI36
NG_007067.2:g.23162G>T , LRG_461:g.23162G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-74G>T	ENSP00000375808.4:n.2047-74G>T
ENST00000682414.1:c.2047-74G>T	ENSP00000507019.1:n.2047-74G>T
ENST00000682508.1:n.2076-74G>T
ENST00000684218.1:c.*1305-74G>T	ENSP00000507804.1:n.*1305-74G>T
ENST00000684264.1:n.1603-74G>T
ENST00000684407.1:c.1924-74G>T	ENSP00000507775.1:n.1924-74G>T
ENST00000684458.1:c.*533-74G>T	ENSP00000508260.1:n.*533-74G>T
ENST00000684468.1:n.1759-74G>T
ENST00000391945.10:c.2047-74G>T MANE Select	ENSP00000375809.4:n.2047-74G>T
ENST00000646507.1:n.2144-74G>T
ENST00000391941.6:c.1975-74G>T	ENSP00000375805.2:n.1975-74G>T
ENST00000391942.6:n.1218-74G>T
ENST00000391944.7:c.1813-74G>T	ENSP00000375808.3:n.1813-74G>T
ENST00000391945.8:c.2047-74G>T	ENSP00000375809.3:n.2047-74G>T
ENST00000588652.5:n.2135-74G>T
NM_000400.3:c.2047-74G>T , LRG_461t1:c.2047-74G>T	NP_000391.1:n.2047-74G>T
XM_011526611.1:c.1969-74G>T	XP_011524913.1:n.1969-74G>T
XM_011526611.2:c.1969-74G>T	XP_011524913.1:n.1969-74G>T
XM_017026467.1:c.1924-74G>T	XP_016881956.1:n.1924-74G>T
XR_001753633.2:n.2094-74G>T
XR_001753634.2:n.2030-74G>T
NM_000400.4:c.2047-74G>T MANE Select	NP_000391.1:n.2047-74G>T