Canonical Allele Identifier: CA2338388786

Gene: ERCC2

Linked Data

• dbSNP Id: rs1568531485
• gnomAD v4: 19-45352382-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352382A>G , CM000681.2:g.45352382A>G	GRCh38
NC_000019.9:g.45855640A>G , CM000681.1:g.45855640A>G	GRCh37
NC_000019.8:g.50547480A>G	NCBI36
NG_007067.2:g.23206T>C , LRG_461:g.23206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2047-30T>C	ENSP00000375808.4:n.2047-30T>C
ENST00000682414.1:c.2047-30T>C	ENSP00000507019.1:n.2047-30T>C
ENST00000682508.1:n.2076-30T>C
ENST00000684218.1:c.*1305-30T>C	ENSP00000507804.1:n.*1305-30T>C
ENST00000684264.1:n.1603-30T>C
ENST00000684407.1:c.1924-30T>C	ENSP00000507775.1:n.1924-30T>C
ENST00000684458.1:c.*533-30T>C	ENSP00000508260.1:n.*533-30T>C
ENST00000684468.1:n.1759-30T>C
ENST00000391945.10:c.2047-30T>C MANE Select	ENSP00000375809.4:n.2047-30T>C
ENST00000646507.1:n.2144-30T>C
ENST00000391941.6:c.1975-30T>C	ENSP00000375805.2:n.1975-30T>C
ENST00000391942.6:n.1218-30T>C
ENST00000391944.7:c.1813-30T>C	ENSP00000375808.3:n.1813-30T>C
ENST00000391945.8:c.2047-30T>C	ENSP00000375809.3:n.2047-30T>C
ENST00000588652.5:n.2135-30T>C
NM_000400.3:c.2047-30T>C , LRG_461t1:c.2047-30T>C	NP_000391.1:n.2047-30T>C
XM_011526611.1:c.1969-30T>C	XP_011524913.1:n.1969-30T>C
XM_011526611.2:c.1969-30T>C	XP_011524913.1:n.1969-30T>C
XM_017026467.1:c.1924-30T>C	XP_016881956.1:n.1924-30T>C
XR_001753633.2:n.2094-30T>C
XR_001753634.2:n.2030-30T>C
NM_000400.4:c.2047-30T>C MANE Select	NP_000391.1:n.2047-30T>C