Canonical Allele Identifier: CA406363636

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855907C>G (hg19) ; chr19:g.45352649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352649C>G , CM000681.2:g.45352649C>G	GRCh38
NC_000019.9:g.45855907C>G , CM000681.1:g.45855907C>G	GRCh37
NC_000019.8:g.50547747C>G	NCBI36
NG_007067.2:g.22939G>C , LRG_461:g.22939G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1903G>C	ENSP00000375808.4:p.Ala635Pro
ENST00000682414.1:c.1903G>C	ENSP00000507019.1:p.Ala635Pro
ENST00000682508.1:n.1932G>C
ENST00000684218.1:c.*1161G>C	ENSP00000507804.1:n.*1161G>C
ENST00000684264.1:n.1459G>C
ENST00000684407.1:c.1780G>C	ENSP00000507775.1:p.Ala594Pro
ENST00000684458.1:c.*389G>C	ENSP00000508260.1:n.*389G>C
ENST00000684468.1:n.1615G>C
ENST00000391945.10:c.1903G>C MANE Select	ENSP00000375809.4:p.Ala635Pro
ENST00000646507.1:n.2000G>C
ENST00000391941.6:c.1831G>C	ENSP00000375805.2:p.Ala611Pro
ENST00000391942.6:n.1074G>C
ENST00000391944.7:c.1669G>C	ENSP00000375808.3:p.Ala557Pro
ENST00000391945.8:c.1903G>C	ENSP00000375809.3:p.Ala635Pro
ENST00000588652.5:n.1991G>C
NM_000400.3:c.1903G>C , LRG_461t1:c.1903G>C	NP_000391.1:p.Ala635Pro
XM_011526611.1:c.1825G>C	XP_011524913.1:p.Ala609Pro
XM_011526611.2:c.1825G>C	XP_011524913.1:p.Ala609Pro
XM_017026467.1:c.1780G>C	XP_016881956.1:p.Ala594Pro
XR_001753633.2:n.1950G>C
XR_001753634.2:n.1886G>C
NM_000400.4:c.1903G>C MANE Select	NP_000391.1:p.Ala635Pro