Canonical Allele Identifier: CA633480459

Gene: ERCC2

Linked Data

• gnomAD v2: 19-45856176-AGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGT-A
• gnomAD v3: 19-45352918-AGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGT-A
• gnomAD v4: 19-45352918-AGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGT-A
• MyVariant Identifiers: chr19:g.45856177_45856247del (hg19) ; chr19:g.45352919_45352989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352924_45352994del , CM000681.2:g.45352924_45352994del	GRCh38
NC_000019.9:g.45856182_45856252del , CM000681.1:g.45856182_45856252del	GRCh37
NC_000019.8:g.50548022_50548092del	NCBI36
NG_007067.2:g.22599_22669del , LRG_461:g.22599_22669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1831+94_1832-103del	ENSP00000375808.4:n.1831+94_1832-103del
ENST00000682414.1:c.1831+94_1832-103del	ENSP00000507019.1:n.1831+94_1832-103del
ENST00000682508.1:n.1860+94_1861-103del
ENST00000684218.1:c.*1089+94_*1090-103del	ENSP00000507804.1:n.*1089+94_*1090-103del
ENST00000684264.1:n.1387+94_1388-103del
ENST00000684407.1:c.1708+94_1709-103del	ENSP00000507775.1:n.1708+94_1709-103del
ENST00000684458.1:c.*317+94_*318-103del	ENSP00000508260.1:n.*317+94_*318-103del
ENST00000684468.1:n.1543+94_1544-103del
ENST00000391945.10:c.1831+94_1832-103del MANE Select	ENSP00000375809.4:n.1831+94_1832-103del
ENST00000646507.1:n.1928+94_1929-103del
ENST00000391941.6:c.1759+94_1760-103del	ENSP00000375805.2:n.1759+94_1760-103del
ENST00000391942.6:n.1002+94_1003-103del
ENST00000391944.7:c.1597+94_1598-103del	ENSP00000375808.3:n.1597+94_1598-103del
ENST00000391945.8:c.1831+94_1832-103del	ENSP00000375809.3:n.1831+94_1832-103del
ENST00000588652.5:n.1919+94_1920-103del
NM_000400.3:c.1831+94_1832-103del , LRG_461t1:c.1831+94_1832-103del	NP_000391.1:n.1831+94_1832-103del
XM_011526611.1:c.1753+94_1754-103del	XP_011524913.1:n.1753+94_1754-103del
XM_011526611.2:c.1753+94_1754-103del	XP_011524913.1:n.1753+94_1754-103del
XM_017026467.1:c.1708+94_1709-103del	XP_016881956.1:n.1708+94_1709-103del
XR_001753633.2:n.1878+94_1879-103del
XR_001753634.2:n.1814+94_1815-103del
NM_000400.4:c.1831+94_1832-103del MANE Select	NP_000391.1:n.1831+94_1832-103del