Canonical Allele Identifier: CA308951546

Gene: ERCC2

Linked Data

• dbSNP Id: rs556480517
• gnomAD v2: 19-45856167-T-TG
• gnomAD v3: 19-45352909-T-TG
• gnomAD v4: 19-45352909-T-TG
• MyVariant Identifiers: chr19:g.45856167_45856168insG (hg19) ; chr19:g.45352909_45352910insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352915dup , CM000681.2:g.45352915dup	GRCh38
NC_000019.9:g.45856173dup , CM000681.1:g.45856173dup	GRCh37
NC_000019.8:g.50548013dup	NCBI36
NG_007067.2:g.22678dup , LRG_461:g.22678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-94dup	ENSP00000375808.4:n.1832-94dup
ENST00000682414.1:c.1832-94dup	ENSP00000507019.1:n.1832-94dup
ENST00000682508.1:n.1861-94dup
ENST00000684218.1:c.*1090-94dup	ENSP00000507804.1:n.*1090-94dup
ENST00000684264.1:n.1388-94dup
ENST00000684407.1:c.1709-94dup	ENSP00000507775.1:n.1709-94dup
ENST00000684458.1:c.*318-94dup	ENSP00000508260.1:n.*318-94dup
ENST00000684468.1:n.1544-94dup
ENST00000391945.10:c.1832-94dup MANE Select	ENSP00000375809.4:n.1832-94dup
ENST00000646507.1:n.1929-94dup
ENST00000391941.6:c.1760-94dup	ENSP00000375805.2:n.1760-94dup
ENST00000391942.6:n.1003-94dup
ENST00000391944.7:c.1598-94dup	ENSP00000375808.3:n.1598-94dup
ENST00000391945.8:c.1832-94dup	ENSP00000375809.3:n.1832-94dup
ENST00000588652.5:n.1920-94dup
NM_000400.3:c.1832-94dup , LRG_461t1:c.1832-94dup	NP_000391.1:n.1832-94dup
XM_011526611.1:c.1754-94dup	XP_011524913.1:n.1754-94dup
XM_011526611.2:c.1754-94dup	XP_011524913.1:n.1754-94dup
XM_017026467.1:c.1709-94dup	XP_016881956.1:n.1709-94dup
XR_001753633.2:n.1879-94dup
XR_001753634.2:n.1815-94dup
NM_000400.4:c.1832-94dup MANE Select	NP_000391.1:n.1832-94dup