Canonical Allele Identifier: CA2585785657

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352885-C-CAACTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352885_45352886insAACTCA , CM000681.2:g.45352885_45352886insAACTCA	GRCh38
NC_000019.9:g.45856143_45856144insAACTCA , CM000681.1:g.45856143_45856144insAACTCA	GRCh37
NC_000019.8:g.50547983_50547984insAACTCA	NCBI36
NG_007067.2:g.22702_22703insTGAGTT , LRG_461:g.22702_22703insTGAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-70_1832-69insTGAGTT	ENSP00000375808.4:n.1832-70_1832-69insTGAGTT
ENST00000682414.1:c.1832-70_1832-69insTGAGTT	ENSP00000507019.1:n.1832-70_1832-69insTGAGTT
ENST00000682508.1:n.1861-70_1861-69insTGAGTT
ENST00000684218.1:c.*1090-70_*1090-69insTGAGTT	ENSP00000507804.1:n.*1090-70_*1090-69insTGAGTT
ENST00000684264.1:n.1388-70_1388-69insTGAGTT
ENST00000684407.1:c.1709-70_1709-69insTGAGTT	ENSP00000507775.1:n.1709-70_1709-69insTGAGTT
ENST00000684458.1:c.*318-70_*318-69insTGAGTT	ENSP00000508260.1:n.*318-70_*318-69insTGAGTT
ENST00000684468.1:n.1544-70_1544-69insTGAGTT
ENST00000391945.10:c.1832-70_1832-69insTGAGTT MANE Select	ENSP00000375809.4:n.1832-70_1832-69insTGAGTT
ENST00000646507.1:n.1929-70_1929-69insTGAGTT
ENST00000391941.6:c.1760-70_1760-69insTGAGTT	ENSP00000375805.2:n.1760-70_1760-69insTGAGTT
ENST00000391942.6:n.1003-70_1003-69insTGAGTT
ENST00000391944.7:c.1598-70_1598-69insTGAGTT	ENSP00000375808.3:n.1598-70_1598-69insTGAGTT
ENST00000391945.8:c.1832-70_1832-69insTGAGTT	ENSP00000375809.3:n.1832-70_1832-69insTGAGTT
ENST00000588652.5:n.1920-70_1920-69insTGAGTT
NM_000400.3:c.1832-70_1832-69insTGAGTT , LRG_461t1:c.1832-70_1832-69insTGAGTT	NP_000391.1:n.1832-70_1832-69insTGAGTT
XM_011526611.1:c.1754-70_1754-69insTGAGTT	XP_011524913.1:n.1754-70_1754-69insTGAGTT
XM_011526611.2:c.1754-70_1754-69insTGAGTT	XP_011524913.1:n.1754-70_1754-69insTGAGTT
XM_017026467.1:c.1709-70_1709-69insTGAGTT	XP_016881956.1:n.1709-70_1709-69insTGAGTT
XR_001753633.2:n.1879-70_1879-69insTGAGTT
XR_001753634.2:n.1815-70_1815-69insTGAGTT
NM_000400.4:c.1832-70_1832-69insTGAGTT MANE Select	NP_000391.1:n.1832-70_1832-69insTGAGTT