Canonical Allele Identifier: CA507953416
Gene: ERCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.45855899C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352641C>G , CM000681.2:g.45352641C>G GRCh38
NC_000019.9:g.45855899C>G , CM000681.1:g.45855899C>G GRCh37
NC_000019.8:g.50547739C>G NCBI36
NG_007067.2:g.22947G>C , LRG_461:g.22947G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1911G>C ENSP00000375808.4:p.Leu637=
ENST00000682414.1:c.1911G>C ENSP00000507019.1:p.Leu637=
ENST00000682508.1:n.1940G>C
ENST00000684218.1:c.*1169G>C ENSP00000507804.1:n.*1169G>C
ENST00000684264.1:n.1467G>C
ENST00000684407.1:c.1788G>C ENSP00000507775.1:p.Leu596=
ENST00000684458.1:c.*397G>C ENSP00000508260.1:n.*397G>C
ENST00000684468.1:n.1623G>C
ENST00000391945.10:c.1911G>C MANE Select ENSP00000375809.4:p.Leu637=
ENST00000646507.1:n.2008G>C
ENST00000391941.6:c.1839G>C ENSP00000375805.2:p.Leu613=
ENST00000391942.6:n.1082G>C
ENST00000391944.7:c.1677G>C ENSP00000375808.3:p.Leu559=
ENST00000391945.8:c.1911G>C ENSP00000375809.3:p.Leu637=
ENST00000588652.5:n.1999G>C
NM_000400.3:c.1911G>C , LRG_461t1:c.1911G>C NP_000391.1:p.Leu637=
XM_011526611.1:c.1833G>C XP_011524913.1:p.Leu611=
XM_011526611.2:c.1833G>C XP_011524913.1:p.Leu611=
XM_017026467.1:c.1788G>C XP_016881956.1:p.Leu596=
XR_001753633.2:n.1958G>C
XR_001753634.2:n.1894G>C
NM_000400.4:c.1911G>C MANE Select NP_000391.1:p.Leu637=