Canonical Allele Identifier: CA882715996

Gene: ERCC2

Linked Data

• dbSNP Id: rs1395049580
• gnomAD v3: 19-45352897-CTG-C
• gnomAD v4: 19-45352897-CTG-C
• MyVariant Identifiers: chr19:g.45856156_45856157del (hg19) ; chr19:g.45352898_45352899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352901_45352902del , CM000681.2:g.45352901_45352902del	GRCh38
NC_000019.9:g.45856159_45856160del , CM000681.1:g.45856159_45856160del	GRCh37
NC_000019.8:g.50547999_50548000del	NCBI36
NG_007067.2:g.22689_22690del , LRG_461:g.22689_22690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-83_1832-82del	ENSP00000375808.4:n.1832-83_1832-82del
ENST00000682414.1:c.1832-83_1832-82del	ENSP00000507019.1:n.1832-83_1832-82del
ENST00000682508.1:n.1861-83_1861-82del
ENST00000684218.1:c.*1090-83_*1090-82del	ENSP00000507804.1:n.*1090-83_*1090-82del
ENST00000684264.1:n.1388-83_1388-82del
ENST00000684407.1:c.1709-83_1709-82del	ENSP00000507775.1:n.1709-83_1709-82del
ENST00000684458.1:c.*318-83_*318-82del	ENSP00000508260.1:n.*318-83_*318-82del
ENST00000684468.1:n.1544-83_1544-82del
ENST00000391945.10:c.1832-83_1832-82del MANE Select	ENSP00000375809.4:n.1832-83_1832-82del
ENST00000646507.1:n.1929-83_1929-82del
ENST00000391941.6:c.1760-83_1760-82del	ENSP00000375805.2:n.1760-83_1760-82del
ENST00000391942.6:n.1003-83_1003-82del
ENST00000391944.7:c.1598-83_1598-82del	ENSP00000375808.3:n.1598-83_1598-82del
ENST00000391945.8:c.1832-83_1832-82del	ENSP00000375809.3:n.1832-83_1832-82del
ENST00000588652.5:n.1920-83_1920-82del
NM_000400.3:c.1832-83_1832-82del , LRG_461t1:c.1832-83_1832-82del	NP_000391.1:n.1832-83_1832-82del
XM_011526611.1:c.1754-83_1754-82del	XP_011524913.1:n.1754-83_1754-82del
XM_011526611.2:c.1754-83_1754-82del	XP_011524913.1:n.1754-83_1754-82del
XM_017026467.1:c.1709-83_1709-82del	XP_016881956.1:n.1709-83_1709-82del
XR_001753633.2:n.1879-83_1879-82del
XR_001753634.2:n.1815-83_1815-82del
NM_000400.4:c.1832-83_1832-82del MANE Select	NP_000391.1:n.1832-83_1832-82del