Canonical Allele Identifier: CA406362147

Gene: ERCC2

Linked Data

• dbSNP Id: rs141808167
• gnomAD v2: 19-45855529-C-G
• gnomAD v4: 19-45352271-C-G
• MyVariant Identifiers: chr19:g.45855529C>G (hg19) ; chr19:g.45352271C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352271C>G , CM000681.2:g.45352271C>G	GRCh38
NC_000019.9:g.45855529C>G , CM000681.1:g.45855529C>G	GRCh37
NC_000019.8:g.50547369C>G	NCBI36
NG_007067.2:g.23317G>C , LRG_461:g.23317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2128G>C	ENSP00000375808.4:p.Val710Leu
ENST00000682414.1:c.2128G>C	ENSP00000507019.1:p.Val710Leu
ENST00000682508.1:n.2157G>C
ENST00000684218.1:c.*1386G>C	ENSP00000507804.1:n.*1386G>C
ENST00000684264.1:n.1684G>C
ENST00000684407.1:c.2005G>C	ENSP00000507775.1:p.Val669Leu
ENST00000684458.1:c.*614G>C	ENSP00000508260.1:n.*614G>C
ENST00000684468.1:n.1840G>C
ENST00000391945.10:c.2128G>C MANE Select	ENSP00000375809.4:p.Val710Leu
ENST00000646507.1:n.2225G>C
ENST00000391941.6:c.2056G>C	ENSP00000375805.2:p.Val686Leu
ENST00000391942.6:n.1299G>C
ENST00000391944.7:c.1894G>C	ENSP00000375808.3:p.Val632Leu
ENST00000391945.8:c.2128G>C	ENSP00000375809.3:p.Val710Leu
ENST00000588652.5:n.2216G>C
NM_000400.3:c.2128G>C , LRG_461t1:c.2128G>C	NP_000391.1:p.Val710Leu
XM_011526611.1:c.2050G>C	XP_011524913.1:p.Val684Leu
XM_011526611.2:c.2050G>C	XP_011524913.1:p.Val684Leu
XM_017026467.1:c.2005G>C	XP_016881956.1:p.Val669Leu
XR_001753633.2:n.2175G>C
XR_001753634.2:n.2111G>C
NM_000400.4:c.2128G>C MANE Select	NP_000391.1:p.Val710Leu