Canonical Allele Identifier: CA406363694

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352751-G-T
• MyVariant Identifiers: chr19:g.45856009G>T (hg19) ; chr19:g.45352751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352751G>T , CM000681.2:g.45352751G>T	GRCh38
NC_000019.9:g.45856009G>T , CM000681.1:g.45856009G>T	GRCh37
NC_000019.8:g.50547849G>T	NCBI36
NG_007067.2:g.22837C>A , LRG_461:g.22837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1897C>A	ENSP00000375808.4:p.Leu633Ile
ENST00000682414.1:c.1897C>A	ENSP00000507019.1:p.Leu633Ile
ENST00000682508.1:n.1926C>A
ENST00000684218.1:c.*1155C>A	ENSP00000507804.1:n.*1155C>A
ENST00000684264.1:n.1453C>A
ENST00000684407.1:c.1774C>A	ENSP00000507775.1:p.Leu592Ile
ENST00000684458.1:c.*383C>A	ENSP00000508260.1:n.*383C>A
ENST00000684468.1:n.1609C>A
ENST00000391945.10:c.1897C>A MANE Select	ENSP00000375809.4:p.Leu633Ile
ENST00000646507.1:n.1994C>A
ENST00000391941.6:c.1825C>A	ENSP00000375805.2:p.Leu609Ile
ENST00000391942.6:n.1068C>A
ENST00000391944.7:c.1663C>A	ENSP00000375808.3:p.Leu555Ile
ENST00000391945.8:c.1897C>A	ENSP00000375809.3:p.Leu633Ile
ENST00000588652.5:n.1985C>A
NM_000400.3:c.1897C>A , LRG_461t1:c.1897C>A	NP_000391.1:p.Leu633Ile
XM_011526611.1:c.1819C>A	XP_011524913.1:p.Leu607Ile
XM_011526611.2:c.1819C>A	XP_011524913.1:p.Leu607Ile
XM_017026467.1:c.1774C>A	XP_016881956.1:p.Leu592Ile
XR_001753633.2:n.1944C>A
XR_001753634.2:n.1880C>A
NM_000400.4:c.1897C>A MANE Select	NP_000391.1:p.Leu633Ile