Canonical Allele Identifier: CA406362862

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855790A>G (hg19) ; chr19:g.45352532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352532A>G , CM000681.2:g.45352532A>G	GRCh38
NC_000019.9:g.45855790A>G , CM000681.1:g.45855790A>G	GRCh37
NC_000019.8:g.50547630A>G	NCBI36
NG_007067.2:g.23056T>C , LRG_461:g.23056T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2020T>C	ENSP00000375808.4:p.Tyr674His
ENST00000682414.1:c.2020T>C	ENSP00000507019.1:p.Tyr674His
ENST00000682508.1:n.2049T>C
ENST00000684218.1:c.*1278T>C	ENSP00000507804.1:n.*1278T>C
ENST00000684264.1:n.1576T>C
ENST00000684407.1:c.1897T>C	ENSP00000507775.1:p.Tyr633His
ENST00000684458.1:c.*506T>C	ENSP00000508260.1:n.*506T>C
ENST00000684468.1:n.1732T>C
ENST00000391945.10:c.2020T>C MANE Select	ENSP00000375809.4:p.Tyr674His
ENST00000646507.1:n.2117T>C
ENST00000391941.6:c.1948T>C	ENSP00000375805.2:p.Tyr650His
ENST00000391942.6:n.1191T>C
ENST00000391944.7:c.1786T>C	ENSP00000375808.3:p.Tyr596His
ENST00000391945.8:c.2020T>C	ENSP00000375809.3:p.Tyr674His
ENST00000588652.5:n.2108T>C
NM_000400.3:c.2020T>C , LRG_461t1:c.2020T>C	NP_000391.1:p.Tyr674His
XM_011526611.1:c.1942T>C	XP_011524913.1:p.Tyr648His
XM_011526611.2:c.1942T>C	XP_011524913.1:p.Tyr648His
XM_017026467.1:c.1897T>C	XP_016881956.1:p.Tyr633His
XR_001753633.2:n.2067T>C
XR_001753634.2:n.2003T>C
NM_000400.4:c.2020T>C MANE Select	NP_000391.1:p.Tyr674His