Canonical Allele Identifier: CA2585785607

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352833-AGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352839_45352915del , CM000681.2:g.45352839_45352915del	GRCh38
NC_000019.9:g.45856097_45856173del , CM000681.1:g.45856097_45856173del	GRCh37
NC_000019.8:g.50547937_50548013del	NCBI36
NG_007067.2:g.22678_22754del , LRG_461:g.22678_22754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-94_1832-18del	ENSP00000375808.4:n.1832-94_1832-18del
ENST00000682414.1:c.1832-94_1832-18del	ENSP00000507019.1:n.1832-94_1832-18del
ENST00000682508.1:n.1861-94_1861-18del
ENST00000684218.1:c.*1090-94_*1090-18del	ENSP00000507804.1:n.*1090-94_*1090-18del
ENST00000684264.1:n.1388-94_1388-18del
ENST00000684407.1:c.1709-94_1709-18del	ENSP00000507775.1:n.1709-94_1709-18del
ENST00000684458.1:c.*318-94_*318-18del	ENSP00000508260.1:n.*318-94_*318-18del
ENST00000684468.1:n.1544-94_1544-18del
ENST00000391945.10:c.1832-94_1832-18del MANE Select	ENSP00000375809.4:n.1832-94_1832-18del
ENST00000646507.1:n.1929-94_1929-18del
ENST00000391941.6:c.1760-94_1760-18del	ENSP00000375805.2:n.1760-94_1760-18del
ENST00000391942.6:n.1003-94_1003-18del
ENST00000391944.7:c.1598-94_1598-18del	ENSP00000375808.3:n.1598-94_1598-18del
ENST00000391945.8:c.1832-94_1832-18del	ENSP00000375809.3:n.1832-94_1832-18del
ENST00000588652.5:n.1920-94_1920-18del
NM_000400.3:c.1832-94_1832-18del , LRG_461t1:c.1832-94_1832-18del	NP_000391.1:n.1832-94_1832-18del
XM_011526611.1:c.1754-94_1754-18del	XP_011524913.1:n.1754-94_1754-18del
XM_011526611.2:c.1754-94_1754-18del	XP_011524913.1:n.1754-94_1754-18del
XM_017026467.1:c.1709-94_1709-18del	XP_016881956.1:n.1709-94_1709-18del
XR_001753633.2:n.1879-94_1879-18del
XR_001753634.2:n.1815-94_1815-18del
NM_000400.4:c.1832-94_1832-18del MANE Select	NP_000391.1:n.1832-94_1832-18del