Canonical Allele Identifier: CA2585785648

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352880-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352882_45352883del , CM000681.2:g.45352882_45352883del	GRCh38
NC_000019.9:g.45856140_45856141del , CM000681.1:g.45856140_45856141del	GRCh37
NC_000019.8:g.50547980_50547981del	NCBI36
NG_007067.2:g.22706_22707del , LRG_461:g.22706_22707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-66_1832-65del	ENSP00000375808.4:n.1832-66_1832-65del
ENST00000682414.1:c.1832-66_1832-65del	ENSP00000507019.1:n.1832-66_1832-65del
ENST00000682508.1:n.1861-66_1861-65del
ENST00000684218.1:c.*1090-66_*1090-65del	ENSP00000507804.1:n.*1090-66_*1090-65del
ENST00000684264.1:n.1388-66_1388-65del
ENST00000684407.1:c.1709-66_1709-65del	ENSP00000507775.1:n.1709-66_1709-65del
ENST00000684458.1:c.*318-66_*318-65del	ENSP00000508260.1:n.*318-66_*318-65del
ENST00000684468.1:n.1544-66_1544-65del
ENST00000391945.10:c.1832-66_1832-65del MANE Select	ENSP00000375809.4:n.1832-66_1832-65del
ENST00000646507.1:n.1929-66_1929-65del
ENST00000391941.6:c.1760-66_1760-65del	ENSP00000375805.2:n.1760-66_1760-65del
ENST00000391942.6:n.1003-66_1003-65del
ENST00000391944.7:c.1598-66_1598-65del	ENSP00000375808.3:n.1598-66_1598-65del
ENST00000391945.8:c.1832-66_1832-65del	ENSP00000375809.3:n.1832-66_1832-65del
ENST00000588652.5:n.1920-66_1920-65del
NM_000400.3:c.1832-66_1832-65del , LRG_461t1:c.1832-66_1832-65del	NP_000391.1:n.1832-66_1832-65del
XM_011526611.1:c.1754-66_1754-65del	XP_011524913.1:n.1754-66_1754-65del
XM_011526611.2:c.1754-66_1754-65del	XP_011524913.1:n.1754-66_1754-65del
XM_017026467.1:c.1709-66_1709-65del	XP_016881956.1:n.1709-66_1709-65del
XR_001753633.2:n.1879-66_1879-65del
XR_001753634.2:n.1815-66_1815-65del
NM_000400.4:c.1832-66_1832-65del MANE Select	NP_000391.1:n.1832-66_1832-65del