Canonical Allele Identifier: CA406363568

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352634-G-C
• MyVariant Identifiers: chr19:g.45855892G>C (hg19) ; chr19:g.45352634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352634G>C , CM000681.2:g.45352634G>C	GRCh38
NC_000019.9:g.45855892G>C , CM000681.1:g.45855892G>C	GRCh37
NC_000019.8:g.50547732G>C	NCBI36
NG_007067.2:g.22954C>G , LRG_461:g.22954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1918C>G	ENSP00000375808.4:p.Leu640Val
ENST00000682414.1:c.1918C>G	ENSP00000507019.1:p.Leu640Val
ENST00000682508.1:n.1947C>G
ENST00000684218.1:c.*1176C>G	ENSP00000507804.1:n.*1176C>G
ENST00000684264.1:n.1474C>G
ENST00000684407.1:c.1795C>G	ENSP00000507775.1:p.Leu599Val
ENST00000684458.1:c.*404C>G	ENSP00000508260.1:n.*404C>G
ENST00000684468.1:n.1630C>G
ENST00000391945.10:c.1918C>G MANE Select	ENSP00000375809.4:p.Leu640Val
ENST00000646507.1:n.2015C>G
ENST00000391941.6:c.1846C>G	ENSP00000375805.2:p.Leu616Val
ENST00000391942.6:n.1089C>G
ENST00000391944.7:c.1684C>G	ENSP00000375808.3:p.Leu562Val
ENST00000391945.8:c.1918C>G	ENSP00000375809.3:p.Leu640Val
ENST00000588652.5:n.2006C>G
NM_000400.3:c.1918C>G , LRG_461t1:c.1918C>G	NP_000391.1:p.Leu640Val
XM_011526611.1:c.1840C>G	XP_011524913.1:p.Leu614Val
XM_011526611.2:c.1840C>G	XP_011524913.1:p.Leu614Val
XM_017026467.1:c.1795C>G	XP_016881956.1:p.Leu599Val
XR_001753633.2:n.1965C>G
XR_001753634.2:n.1901C>G
NM_000400.4:c.1918C>G MANE Select	NP_000391.1:p.Leu640Val