Canonical Allele Identifier: CA633340704

Gene: ERCC2

Linked Data

• dbSNP Id: rs1167873095
• gnomAD v2: 19-45856728-G-GGAATTGTCCAACCTC
• gnomAD v3: 19-45353470-G-GGAATTGTCCAACCTC
• gnomAD v4: 19-45353470-G-GGAATTGTCCAACCTC
• MyVariant Identifiers: chr19:g.45856728_45856729insGAATTGTCCAACCTC (hg19) ; chr19:g.45353470_45353471insGAATTGTCCAACCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353471_45353485dup , CM000681.2:g.45353471_45353485dup	GRCh38
NC_000019.9:g.45856729_45856743dup , CM000681.1:g.45856729_45856743dup	GRCh37
NC_000019.8:g.50548569_50548583dup	NCBI36
NG_007067.2:g.22103_22117dup , LRG_461:g.22103_22117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-151_1666-137dup	ENSP00000375808.4:n.1666-151_1666-137dup
ENST00000682414.1:c.1666-151_1666-137dup	ENSP00000507019.1:n.1666-151_1666-137dup
ENST00000682508.1:n.1695-151_1695-137dup
ENST00000684218.1:c.*924-151_*924-137dup	ENSP00000507804.1:n.*924-151_*924-137dup
ENST00000684264.1:n.1222-151_1222-137dup
ENST00000684407.1:c.1543-151_1543-137dup	ENSP00000507775.1:n.1543-151_1543-137dup
ENST00000684458.1:c.*152-151_*152-137dup	ENSP00000508260.1:n.*152-151_*152-137dup
ENST00000684468.1:n.1378-151_1378-137dup
ENST00000391945.10:c.1666-151_1666-137dup MANE Select	ENSP00000375809.4:n.1666-151_1666-137dup
ENST00000587376.6:c.725-151_725-137dup
ENST00000646507.1:n.1763-151_1763-137dup
ENST00000391941.6:c.1594-151_1594-137dup	ENSP00000375805.2:n.1594-151_1594-137dup
ENST00000391942.6:n.837-151_837-137dup
ENST00000391944.7:c.1432-151_1432-137dup	ENSP00000375808.3:n.1432-151_1432-137dup
ENST00000391945.8:c.1666-151_1666-137dup	ENSP00000375809.3:n.1666-151_1666-137dup
ENST00000587376.5:c.725-151_725-137dup
ENST00000588652.5:n.1754-151_1754-137dup
NM_000400.3:c.1666-151_1666-137dup , LRG_461t1:c.1666-151_1666-137dup	NP_000391.1:n.1666-151_1666-137dup
XM_011526611.1:c.1588-151_1588-137dup	XP_011524913.1:n.1588-151_1588-137dup
XR_935763.1:n.1649-151_1649-137dup
XM_011526611.2:c.1588-151_1588-137dup	XP_011524913.1:n.1588-151_1588-137dup
XM_017026467.1:c.1543-151_1543-137dup	XP_016881956.1:n.1543-151_1543-137dup
XR_001753633.2:n.1713-151_1713-137dup
XR_001753634.2:n.1649-151_1649-137dup
NM_000400.4:c.1666-151_1666-137dup MANE Select	NP_000391.1:n.1666-151_1666-137dup