Canonical Allele Identifier: CA633479907

Gene: ERCC2

Linked Data

• dbSNP Id: rs1161055566
• gnomAD v2: 19-45855505-TGGC-T
• gnomAD v4: 19-45352247-TGGC-T
• MyVariant Identifiers: chr19:g.45855506_45855508del (hg19) ; chr19:g.45352248_45352250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352248_45352250del , CM000681.2:g.45352248_45352250del	GRCh38
NC_000019.9:g.45855506_45855508del , CM000681.1:g.45855506_45855508del	GRCh37
NC_000019.8:g.50547346_50547348del	NCBI36
NG_007067.2:g.23338_23340del , LRG_461:g.23338_23340del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2149_2151del	ENSP00000375808.4:p.Ala717del
ENST00000682414.1:c.2149_2151del	ENSP00000507019.1:p.Ala717del
ENST00000682508.1:n.2178_2180del
ENST00000684218.1:c.*1407_*1409del	ENSP00000507804.1:n.*1407_*1409del
ENST00000684264.1:n.1705_1707del
ENST00000684407.1:c.2026_2028del	ENSP00000507775.1:p.Ala676del
ENST00000684458.1:c.*635_*637del	ENSP00000508260.1:n.*635_*637del
ENST00000684468.1:n.1861_1863del
ENST00000391945.10:c.2149_2151del MANE Select	ENSP00000375809.4:p.Ala717del
ENST00000646507.1:n.2246_2248del
ENST00000391941.6:c.2077_2079del	ENSP00000375805.2:p.Ala693del
ENST00000391942.6:n.1320_1322del
ENST00000391944.7:c.1915_1917del	ENSP00000375808.3:p.Ala639del
ENST00000391945.8:c.2149_2151del	ENSP00000375809.3:p.Ala717del
ENST00000588652.5:n.2237_2239del
NM_000400.3:c.2149_2151del , LRG_461t1:c.2149_2151del	NP_000391.1:p.Ala717del
XM_011526611.1:c.2071_2073del	XP_011524913.1:p.Ala691del
XM_011526611.2:c.2071_2073del	XP_011524913.1:p.Ala691del
XM_017026467.1:c.2026_2028del	XP_016881956.1:p.Ala676del
XR_001753633.2:n.2196_2198del
XR_001753634.2:n.2132_2134del
NM_000400.4:c.2149_2151del MANE Select	NP_000391.1:p.Ala717del