Canonical Allele Identifier: CA9513781
Gene: ERCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.45365051T>G
GRCh37 chr19:g.45868309T>G
gnomAD v2:
19:45868309 T / G
gnomAD v3:
19:45365051 T / G
gnomAD v4:
chr19-45365051-T-G
Joint Max Group AF 0.86921313 (AFR)
Genomes Max Group AF 0.86128277 (AFR)
Exomes Max Group AF 0.8738841 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45365051T>G , CM000681.2:g.45365051T>G GRCh38
NC_000019.9:g.45868309T>G , CM000681.1:g.45868309T>G GRCh37
NC_000019.8:g.50560149T>G NCBI36
NG_007067.2:g.10537A>C , LRG_461:g.10537A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.468A>C ENSP00000375808.4:p.Arg156=
ENST00000682414.1:c.468A>C ENSP00000507019.1:p.Arg156=
ENST00000682508.1:n.497A>C
ENST00000684218.1:c.468A>C ENSP00000507804.1:p.Arg156=
ENST00000684407.1:c.345A>C ENSP00000507775.1:p.Arg115=
ENST00000684458.1:c.468A>C ENSP00000508260.1:p.Arg156=
ENST00000391945.10:c.468A>C MANE Select ENSP00000375809.4:p.Arg156=
ENST00000586131.6:c.396A>C ENSP00000464887.1:p.Arg132=
ENST00000646507.1:n.565A>C
ENST00000391941.6:c.396A>C ENSP00000375805.2:p.Arg132=
ENST00000391944.7:c.361-504A>C ENSP00000375808.3:n.361-504A>C
ENST00000391945.8:c.468A>C ENSP00000375809.3:p.Arg156=
ENST00000485403.6:c.396A>C ENSP00000431229.2:p.Arg132=
ENST00000586131.5:c.396A>C ENSP00000464887.1:p.Arg132=
ENST00000586441.1:n.460A>C
ENST00000586737.5:n.356-720A>C
ENST00000586856.1:c.318A>C ENSP00000466998.1:p.Arg106=
ENST00000591309.5:c.361-720A>C ENSP00000465207.1:n.361-720A>C
NM_000400.3:c.468A>C , LRG_461t1:c.468A>C NP_000391.1:p.Arg156=
NM_001130867.1:c.396A>C NP_001124339.1:p.Arg132=
XM_011526611.1:c.390A>C XP_011524913.1:p.Arg130=
XR_935763.1:n.515A>C
XM_011526611.2:c.390A>C XP_011524913.1:p.Arg130=
XM_017026467.1:c.345A>C XP_016881956.1:p.Arg115=
XR_001753633.2:n.515A>C
XR_001753634.2:n.515A>C
NM_000400.4:c.468A>C MANE Select NP_000391.1:p.Arg156=
NM_001130867.2:c.396A>C NP_001124339.1:p.Arg132=
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