Canonical Allele Identifier: CA406360901

Gene: ERCC2

Linked Data

• dbSNP Id: rs1568531156
• gnomAD v4: 19-45352220-G-T
• MyVariant Identifiers: chr19:g.45855478G>T (hg19) ; chr19:g.45352220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352220G>T , CM000681.2:g.45352220G>T	GRCh38
NC_000019.9:g.45855478G>T , CM000681.1:g.45855478G>T	GRCh37
NC_000019.8:g.50547318G>T	NCBI36
NG_007067.2:g.23368C>A , LRG_461:g.23368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2179C>A	ENSP00000375808.4:p.Pro727Thr
ENST00000682414.1:c.2179C>A	ENSP00000507019.1:p.Pro727Thr
ENST00000682508.1:n.2208C>A
ENST00000684218.1:c.*1437C>A	ENSP00000507804.1:n.*1437C>A
ENST00000684264.1:n.1735C>A
ENST00000684407.1:c.2056C>A	ENSP00000507775.1:p.Pro686Thr
ENST00000684458.1:c.*665C>A	ENSP00000508260.1:n.*665C>A
ENST00000684468.1:n.1891C>A
ENST00000391945.10:c.2179C>A MANE Select	ENSP00000375809.4:p.Pro727Thr
ENST00000646507.1:n.2276C>A
ENST00000391941.6:c.2107C>A	ENSP00000375805.2:p.Pro703Thr
ENST00000391942.6:n.1350C>A
ENST00000391944.7:c.1945C>A	ENSP00000375808.3:p.Pro649Thr
ENST00000391945.8:c.2179C>A	ENSP00000375809.3:p.Pro727Thr
ENST00000588652.5:n.2267C>A
NM_000400.3:c.2179C>A , LRG_461t1:c.2179C>A	NP_000391.1:p.Pro727Thr
XM_011526611.1:c.2101C>A	XP_011524913.1:p.Pro701Thr
XM_011526611.2:c.2101C>A	XP_011524913.1:p.Pro701Thr
XM_017026467.1:c.2056C>A	XP_016881956.1:p.Pro686Thr
XR_001753633.2:n.2226C>A
XR_001753634.2:n.2162C>A
NM_000400.4:c.2179C>A MANE Select	NP_000391.1:p.Pro727Thr