Canonical Allele Identifier: CA2576816134

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352893-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352893G>A , CM000681.2:g.45352893G>A	GRCh38
NC_000019.9:g.45856151G>A , CM000681.1:g.45856151G>A	GRCh37
NC_000019.8:g.50547991G>A	NCBI36
NG_007067.2:g.22695C>T , LRG_461:g.22695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-77C>T	ENSP00000375808.4:n.1832-77C>T
ENST00000682414.1:c.1832-77C>T	ENSP00000507019.1:n.1832-77C>T
ENST00000682508.1:n.1861-77C>T
ENST00000684218.1:c.*1090-77C>T	ENSP00000507804.1:n.*1090-77C>T
ENST00000684264.1:n.1388-77C>T
ENST00000684407.1:c.1709-77C>T	ENSP00000507775.1:n.1709-77C>T
ENST00000684458.1:c.*318-77C>T	ENSP00000508260.1:n.*318-77C>T
ENST00000684468.1:n.1544-77C>T
ENST00000391945.10:c.1832-77C>T MANE Select	ENSP00000375809.4:n.1832-77C>T
ENST00000646507.1:n.1929-77C>T
ENST00000391941.6:c.1760-77C>T	ENSP00000375805.2:n.1760-77C>T
ENST00000391942.6:n.1003-77C>T
ENST00000391944.7:c.1598-77C>T	ENSP00000375808.3:n.1598-77C>T
ENST00000391945.8:c.1832-77C>T	ENSP00000375809.3:n.1832-77C>T
ENST00000588652.5:n.1920-77C>T
NM_000400.3:c.1832-77C>T , LRG_461t1:c.1832-77C>T	NP_000391.1:n.1832-77C>T
XM_011526611.1:c.1754-77C>T	XP_011524913.1:n.1754-77C>T
XM_011526611.2:c.1754-77C>T	XP_011524913.1:n.1754-77C>T
XM_017026467.1:c.1709-77C>T	XP_016881956.1:n.1709-77C>T
XR_001753633.2:n.1879-77C>T
XR_001753634.2:n.1815-77C>T
NM_000400.4:c.1832-77C>T MANE Select	NP_000391.1:n.1832-77C>T