Canonical Allele Identifier: CA406373091

Gene: ERCC2

Linked Data

• dbSNP Id: rs1165852088
• gnomAD v2: 19-45867151-A-G
• gnomAD v4: 19-45363893-A-G
• MyVariant Identifiers: chr19:g.45867151A>G (hg19) ; chr19:g.45363893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363893A>G , CM000681.2:g.45363893A>G	GRCh38
NC_000019.9:g.45867151A>G , CM000681.1:g.45867151A>G	GRCh37
NC_000019.8:g.50558991A>G	NCBI36
NG_007067.2:g.11695T>C , LRG_461:g.11695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.968T>C	ENSP00000375808.4:p.Ile323Thr
ENST00000682414.1:c.968T>C	ENSP00000507019.1:p.Ile323Thr
ENST00000682508.1:n.997T>C
ENST00000684218.1:c.*226T>C	ENSP00000507804.1:n.*226T>C
ENST00000684407.1:c.845T>C	ENSP00000507775.1:p.Ile282Thr
ENST00000684458.1:c.968T>C	ENSP00000508260.1:p.Ile323Thr
ENST00000391945.10:c.968T>C MANE Select	ENSP00000375809.4:p.Ile323Thr
ENST00000587376.6:c.91T>C
ENST00000646507.1:n.1065T>C
ENST00000391941.6:c.896T>C	ENSP00000375805.2:p.Ile299Thr
ENST00000391944.7:c.734T>C	ENSP00000375808.3:p.Ile245Thr
ENST00000391945.8:c.968T>C	ENSP00000375809.3:p.Ile323Thr
ENST00000485403.6:c.896T>C	ENSP00000431229.2:p.Ile299Thr
ENST00000587376.5:c.91T>C
NM_000400.3:c.968T>C , LRG_461t1:c.968T>C	NP_000391.1:p.Ile323Thr
NM_001130867.1:c.896T>C	NP_001124339.1:p.Ile299Thr
XM_011526611.1:c.890T>C	XP_011524913.1:p.Ile297Thr
XR_935763.1:n.1015T>C
XM_011526611.2:c.890T>C	XP_011524913.1:p.Ile297Thr
XM_017026467.1:c.845T>C	XP_016881956.1:p.Ile282Thr
XR_001753633.2:n.1015T>C
XR_001753634.2:n.1015T>C
NM_000400.4:c.968T>C MANE Select	NP_000391.1:p.Ile323Thr
NM_001130867.2:c.896T>C	NP_001124339.1:p.Ile299Thr