Canonical Allele Identifier: CA406364502

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856571T>C (hg19) ; chr19:g.45353313T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353313T>C , CM000681.2:g.45353313T>C	GRCh38
NC_000019.9:g.45856571T>C , CM000681.1:g.45856571T>C	GRCh37
NC_000019.8:g.50548411T>C	NCBI36
NG_007067.2:g.22275A>G , LRG_461:g.22275A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1687A>G	ENSP00000375808.4:p.Arg563Gly
ENST00000682414.1:c.1687A>G	ENSP00000507019.1:p.Arg563Gly
ENST00000682508.1:n.1716A>G
ENST00000684218.1:c.*945A>G	ENSP00000507804.1:n.*945A>G
ENST00000684264.1:n.1243A>G
ENST00000684407.1:c.1564A>G	ENSP00000507775.1:p.Arg522Gly
ENST00000684458.1:c.*173A>G	ENSP00000508260.1:n.*173A>G
ENST00000684468.1:n.1399A>G
ENST00000391945.10:c.1687A>G MANE Select	ENSP00000375809.4:p.Arg563Gly
ENST00000587376.6:c.746A>G
ENST00000646507.1:n.1784A>G
ENST00000391941.6:c.1615A>G	ENSP00000375805.2:p.Arg539Gly
ENST00000391942.6:n.858A>G
ENST00000391944.7:c.1453A>G	ENSP00000375808.3:p.Arg485Gly
ENST00000391945.8:c.1687A>G	ENSP00000375809.3:p.Arg563Gly
ENST00000587376.5:c.746A>G
ENST00000588652.5:n.1775A>G
NM_000400.3:c.1687A>G , LRG_461t1:c.1687A>G	NP_000391.1:p.Arg563Gly
XM_011526611.1:c.1609A>G	XP_011524913.1:p.Arg537Gly
XR_935763.1:n.1670A>G
XM_011526611.2:c.1609A>G	XP_011524913.1:p.Arg537Gly
XM_017026467.1:c.1564A>G	XP_016881956.1:p.Arg522Gly
XR_001753633.2:n.1734A>G
XR_001753634.2:n.1670A>G
NM_000400.4:c.1687A>G MANE Select	NP_000391.1:p.Arg563Gly