Canonical Allele Identifier: CA2338389161

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971868412

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352944_45352945insTG , CM000681.2:g.45352944_45352945insTG	GRCh38
NC_000019.9:g.45856202_45856203insTG , CM000681.1:g.45856202_45856203insTG	GRCh37
NC_000019.8:g.50548042_50548043insTG	NCBI36
NG_007067.2:g.22644_22645insAC , LRG_461:g.22644_22645insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-128_1832-127insAC	ENSP00000375808.4:n.1832-128_1832-127insAC
ENST00000682414.1:c.1832-128_1832-127insAC	ENSP00000507019.1:n.1832-128_1832-127insAC
ENST00000682508.1:n.1861-128_1861-127insAC
ENST00000684218.1:c.*1090-128_*1090-127insAC	ENSP00000507804.1:n.*1090-128_*1090-127insAC
ENST00000684264.1:n.1388-128_1388-127insAC
ENST00000684407.1:c.1709-128_1709-127insAC	ENSP00000507775.1:n.1709-128_1709-127insAC
ENST00000684458.1:c.*318-128_*318-127insAC	ENSP00000508260.1:n.*318-128_*318-127insAC
ENST00000684468.1:n.1544-128_1544-127insAC
ENST00000391945.10:c.1832-128_1832-127insAC MANE Select	ENSP00000375809.4:n.1832-128_1832-127insAC
ENST00000646507.1:n.1929-128_1929-127insAC
ENST00000391941.6:c.1760-128_1760-127insAC	ENSP00000375805.2:n.1760-128_1760-127insAC
ENST00000391942.6:n.1003-128_1003-127insAC
ENST00000391944.7:c.1598-128_1598-127insAC	ENSP00000375808.3:n.1598-128_1598-127insAC
ENST00000391945.8:c.1832-128_1832-127insAC	ENSP00000375809.3:n.1832-128_1832-127insAC
ENST00000588652.5:n.1920-128_1920-127insAC
NM_000400.3:c.1832-128_1832-127insAC , LRG_461t1:c.1832-128_1832-127insAC	NP_000391.1:n.1832-128_1832-127insAC
XM_011526611.1:c.1754-128_1754-127insAC	XP_011524913.1:n.1754-128_1754-127insAC
XM_011526611.2:c.1754-128_1754-127insAC	XP_011524913.1:n.1754-128_1754-127insAC
XM_017026467.1:c.1709-128_1709-127insAC	XP_016881956.1:n.1709-128_1709-127insAC
XR_001753633.2:n.1879-128_1879-127insAC
XR_001753634.2:n.1815-128_1815-127insAC
NM_000400.4:c.1832-128_1832-127insAC MANE Select	NP_000391.1:n.1832-128_1832-127insAC