Canonical Allele Identifier: CA308950036

Gene: ERCC2

Linked Data

• dbSNP Id: rs994583786
• gnomAD v3: 19-45352250-C-T
• gnomAD v4: 19-45352250-C-T
• MyVariant Identifiers: chr19:g.45855508C>T (hg19) ; chr19:g.45352250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352250C>T , CM000681.2:g.45352250C>T	GRCh38
NC_000019.9:g.45855508C>T , CM000681.1:g.45855508C>T	GRCh37
NC_000019.8:g.50547348C>T	NCBI36
NG_007067.2:g.23338G>A , LRG_461:g.23338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2149G>A	ENSP00000375808.4:p.Ala717Thr
ENST00000682414.1:c.2149G>A	ENSP00000507019.1:p.Ala717Thr
ENST00000682508.1:n.2178G>A
ENST00000684218.1:c.*1407G>A	ENSP00000507804.1:n.*1407G>A
ENST00000684264.1:n.1705G>A
ENST00000684407.1:c.2026G>A	ENSP00000507775.1:p.Ala676Thr
ENST00000684458.1:c.*635G>A	ENSP00000508260.1:n.*635G>A
ENST00000684468.1:n.1861G>A
ENST00000391945.10:c.2149G>A MANE Select	ENSP00000375809.4:p.Ala717Thr
ENST00000646507.1:n.2246G>A
ENST00000391941.6:c.2077G>A	ENSP00000375805.2:p.Ala693Thr
ENST00000391942.6:n.1320G>A
ENST00000391944.7:c.1915G>A	ENSP00000375808.3:p.Ala639Thr
ENST00000391945.8:c.2149G>A	ENSP00000375809.3:p.Ala717Thr
ENST00000588652.5:n.2237G>A
NM_000400.3:c.2149G>A , LRG_461t1:c.2149G>A	NP_000391.1:p.Ala717Thr
XM_011526611.1:c.2071G>A	XP_011524913.1:p.Ala691Thr
XM_011526611.2:c.2071G>A	XP_011524913.1:p.Ala691Thr
XM_017026467.1:c.2026G>A	XP_016881956.1:p.Ala676Thr
XR_001753633.2:n.2196G>A
XR_001753634.2:n.2132G>A
NM_000400.4:c.2149G>A MANE Select	NP_000391.1:p.Ala717Thr