Canonical Allele Identifier: CA633340823

Gene: ERCC2

Linked Data

• dbSNP Id: rs1443354221
• gnomAD v2: 19-45857396-C-G
• gnomAD v3: 19-45354138-C-G
• gnomAD v4: 19-45354138-C-G
• MyVariant Identifiers: chr19:g.45857396C>G (hg19) ; chr19:g.45354138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354138C>G , CM000681.2:g.45354138C>G	GRCh38
NC_000019.9:g.45857396C>G , CM000681.1:g.45857396C>G	GRCh37
NC_000019.8:g.50549236C>G	NCBI36
NG_007067.2:g.21450G>C , LRG_461:g.21450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1665+592G>C	ENSP00000375808.4:n.1665+592G>C
ENST00000682414.1:c.1665+592G>C	ENSP00000507019.1:n.1665+592G>C
ENST00000682508.1:n.1694+592G>C
ENST00000684218.1:c.*923+592G>C	ENSP00000507804.1:n.*923+592G>C
ENST00000684264.1:n.1221+592G>C
ENST00000684407.1:c.1542+592G>C	ENSP00000507775.1:n.1542+592G>C
ENST00000684458.1:c.*151+592G>C	ENSP00000508260.1:n.*151+592G>C
ENST00000684468.1:n.1377+592G>C
ENST00000391945.10:c.1665+592G>C MANE Select	ENSP00000375809.4:n.1665+592G>C
ENST00000587376.6:c.724+592G>C
ENST00000646507.1:n.1762+592G>C
ENST00000391941.6:c.1593+592G>C	ENSP00000375805.2:n.1593+592G>C
ENST00000391942.6:n.836+592G>C
ENST00000391944.7:c.1431+592G>C	ENSP00000375808.3:n.1431+592G>C
ENST00000391945.8:c.1665+592G>C	ENSP00000375809.3:n.1665+592G>C
ENST00000587376.5:c.724+592G>C
ENST00000588652.5:n.1753+592G>C
NM_000400.3:c.1665+592G>C , LRG_461t1:c.1665+592G>C	NP_000391.1:n.1665+592G>C
XM_011526611.1:c.1587+592G>C	XP_011524913.1:n.1587+592G>C
XR_935763.1:n.1648+592G>C
XM_011526611.2:c.1587+592G>C	XP_011524913.1:n.1587+592G>C
XM_017026467.1:c.1542+592G>C	XP_016881956.1:n.1542+592G>C
XR_001753633.2:n.1712+592G>C
XR_001753634.2:n.1648+592G>C
NM_000400.4:c.1665+592G>C MANE Select	NP_000391.1:n.1665+592G>C