Canonical Allele Identifier: CA406362772

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855778C>G (hg19) ; chr19:g.45352520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352520C>G , CM000681.2:g.45352520C>G	GRCh38
NC_000019.9:g.45855778C>G , CM000681.1:g.45855778C>G	GRCh37
NC_000019.8:g.50547618C>G	NCBI36
NG_007067.2:g.23068G>C , LRG_461:g.23068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2032G>C	ENSP00000375808.4:p.Val678Leu
ENST00000682414.1:c.2032G>C	ENSP00000507019.1:p.Val678Leu
ENST00000682508.1:n.2061G>C
ENST00000684218.1:c.*1290G>C	ENSP00000507804.1:n.*1290G>C
ENST00000684264.1:n.1588G>C
ENST00000684407.1:c.1909G>C	ENSP00000507775.1:p.Val637Leu
ENST00000684458.1:c.*518G>C	ENSP00000508260.1:n.*518G>C
ENST00000684468.1:n.1744G>C
ENST00000391945.10:c.2032G>C MANE Select	ENSP00000375809.4:p.Val678Leu
ENST00000646507.1:n.2129G>C
ENST00000391941.6:c.1960G>C	ENSP00000375805.2:p.Val654Leu
ENST00000391942.6:n.1203G>C
ENST00000391944.7:c.1798G>C	ENSP00000375808.3:p.Val600Leu
ENST00000391945.8:c.2032G>C	ENSP00000375809.3:p.Val678Leu
ENST00000588652.5:n.2120G>C
NM_000400.3:c.2032G>C , LRG_461t1:c.2032G>C	NP_000391.1:p.Val678Leu
XM_011526611.1:c.1954G>C	XP_011524913.1:p.Val652Leu
XM_011526611.2:c.1954G>C	XP_011524913.1:p.Val652Leu
XM_017026467.1:c.1909G>C	XP_016881956.1:p.Val637Leu
XR_001753633.2:n.2079G>C
XR_001753634.2:n.2015G>C
NM_000400.4:c.2032G>C MANE Select	NP_000391.1:p.Val678Leu