Canonical Allele Identifier: CA406363169

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855832C>G (hg19) ; chr19:g.45352574C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352574C>G , CM000681.2:g.45352574C>G	GRCh38
NC_000019.9:g.45855832C>G , CM000681.1:g.45855832C>G	GRCh37
NC_000019.8:g.50547672C>G	NCBI36
NG_007067.2:g.23014G>C , LRG_461:g.23014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1978G>C	ENSP00000375808.4:p.Ala660Pro
ENST00000682414.1:c.1978G>C	ENSP00000507019.1:p.Ala660Pro
ENST00000682508.1:n.2007G>C
ENST00000684218.1:c.*1236G>C	ENSP00000507804.1:n.*1236G>C
ENST00000684264.1:n.1534G>C
ENST00000684407.1:c.1855G>C	ENSP00000507775.1:p.Ala619Pro
ENST00000684458.1:c.*464G>C	ENSP00000508260.1:n.*464G>C
ENST00000684468.1:n.1690G>C
ENST00000391945.10:c.1978G>C MANE Select	ENSP00000375809.4:p.Ala660Pro
ENST00000646507.1:n.2075G>C
ENST00000391941.6:c.1906G>C	ENSP00000375805.2:p.Ala636Pro
ENST00000391942.6:n.1149G>C
ENST00000391944.7:c.1744G>C	ENSP00000375808.3:p.Ala582Pro
ENST00000391945.8:c.1978G>C	ENSP00000375809.3:p.Ala660Pro
ENST00000588652.5:n.2066G>C
NM_000400.3:c.1978G>C , LRG_461t1:c.1978G>C	NP_000391.1:p.Ala660Pro
XM_011526611.1:c.1900G>C	XP_011524913.1:p.Ala634Pro
XM_011526611.2:c.1900G>C	XP_011524913.1:p.Ala634Pro
XM_017026467.1:c.1855G>C	XP_016881956.1:p.Ala619Pro
XR_001753633.2:n.2025G>C
XR_001753634.2:n.1961G>C
NM_000400.4:c.1978G>C MANE Select	NP_000391.1:p.Ala660Pro