Canonical Allele Identifier: CA633480448

Gene: ERCC2

Linked Data

• dbSNP Id: rs1568532174
• gnomAD v2: 19-45856098-G-GAGGGGGGTTACAAGTGTGGC
• gnomAD v4: 19-45352840-G-GAGGGGGGTTACAAGTGTGGC
• MyVariant Identifiers: chr19:g.45856098_45856099insAGGGGGGTTACAAGTGTGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352841_45352860dup , CM000681.2:g.45352841_45352860dup	GRCh38
NC_000019.9:g.45856099_45856118dup , CM000681.1:g.45856099_45856118dup	GRCh37
NC_000019.8:g.50547939_50547958dup	NCBI36
NG_007067.2:g.22728_22747dup , LRG_461:g.22728_22747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-44_1832-25dup	ENSP00000375808.4:n.1832-44_1832-25dup
ENST00000682414.1:c.1832-44_1832-25dup	ENSP00000507019.1:n.1832-44_1832-25dup
ENST00000682508.1:n.1861-44_1861-25dup
ENST00000684218.1:c.*1090-44_*1090-25dup	ENSP00000507804.1:n.*1090-44_*1090-25dup
ENST00000684264.1:n.1388-44_1388-25dup
ENST00000684407.1:c.1709-44_1709-25dup	ENSP00000507775.1:n.1709-44_1709-25dup
ENST00000684458.1:c.*318-44_*318-25dup	ENSP00000508260.1:n.*318-44_*318-25dup
ENST00000684468.1:n.1544-44_1544-25dup
ENST00000391945.10:c.1832-44_1832-25dup MANE Select	ENSP00000375809.4:n.1832-44_1832-25dup
ENST00000646507.1:n.1929-44_1929-25dup
ENST00000391941.6:c.1760-44_1760-25dup	ENSP00000375805.2:n.1760-44_1760-25dup
ENST00000391942.6:n.1003-44_1003-25dup
ENST00000391944.7:c.1598-44_1598-25dup	ENSP00000375808.3:n.1598-44_1598-25dup
ENST00000391945.8:c.1832-44_1832-25dup	ENSP00000375809.3:n.1832-44_1832-25dup
ENST00000588652.5:n.1920-44_1920-25dup
NM_000400.3:c.1832-44_1832-25dup , LRG_461t1:c.1832-44_1832-25dup	NP_000391.1:n.1832-44_1832-25dup
XM_011526611.1:c.1754-44_1754-25dup	XP_011524913.1:n.1754-44_1754-25dup
XM_011526611.2:c.1754-44_1754-25dup	XP_011524913.1:n.1754-44_1754-25dup
XM_017026467.1:c.1709-44_1709-25dup	XP_016881956.1:n.1709-44_1709-25dup
XR_001753633.2:n.1879-44_1879-25dup
XR_001753634.2:n.1815-44_1815-25dup
NM_000400.4:c.1832-44_1832-25dup MANE Select	NP_000391.1:n.1832-44_1832-25dup