Canonical Allele Identifier: CA9512843

Gene: ERCC2

Linked Data

• dbSNP Id: rs746647399
• ExAC: 19:45855433 TGGGAGGGTGCC / T
• gnomAD v2: 19-45855433-TGGGAGGGTGCC-T
• gnomAD v3: 19-45352175-TGGGAGGGTGCC-T
• gnomAD v4: 19-45352175-TGGGAGGGTGCC-T
• MyVariant Identifiers: chr19:g.45855434_45855444del (hg19) ; chr19:g.45352176_45352186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352183_45352193del , CM000681.2:g.45352183_45352193del	GRCh38
NC_000019.9:g.45855441_45855451del , CM000681.1:g.45855441_45855451del	GRCh37
NC_000019.8:g.50547281_50547291del	NCBI36
NG_007067.2:g.23402_23412del , LRG_461:g.23402_23412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2213_2223del	ENSP00000375808.4:p.Arg738GlnfsTer?
ENST00000682414.1:c.2190+23_2190+33del	ENSP00000507019.1:n.2190+23_2190+33del
ENST00000682508.1:n.2219+23_2219+33del
ENST00000684218.1:c.*1448+23_*1448+33del	ENSP00000507804.1:n.*1448+23_*1448+33del
ENST00000684264.1:n.1746+23_1746+33del
ENST00000684407.1:c.2067+23_2067+33del	ENSP00000507775.1:n.2067+23_2067+33del
ENST00000684458.1:c.*676+23_*676+33del	ENSP00000508260.1:n.*676+23_*676+33del
ENST00000684468.1:n.1902+23_1902+33del
ENST00000391945.10:c.2190+23_2190+33del MANE Select	ENSP00000375809.4:n.2190+23_2190+33del
ENST00000646507.1:n.2287+23_2287+33del
ENST00000391942.6:n.1361+23_1361+33del
ENST00000391944.7:c.1956+23_1956+33del	ENSP00000375808.3:n.1956+23_1956+33del
ENST00000391945.8:c.2190+23_2190+33del	ENSP00000375809.3:n.2190+23_2190+33del
ENST00000588652.5:n.2278+23_2278+33del
NM_000400.3:c.2190+23_2190+33del , LRG_461t1:c.2190+23_2190+33del	NP_000391.1:n.2190+23_2190+33del
XM_011526611.1:c.2112+23_2112+33del	XP_011524913.1:n.2112+23_2112+33del
XM_011526611.2:c.2112+23_2112+33del	XP_011524913.1:n.2112+23_2112+33del
XM_017026467.1:c.2067+23_2067+33del	XP_016881956.1:n.2067+23_2067+33del
XR_001753633.2:n.2237+23_2237+33del
XR_001753634.2:n.2173+23_2173+33del
NM_000400.4:c.2190+23_2190+33del MANE Select	NP_000391.1:n.2190+23_2190+33del