Canonical Allele Identifier: CA308953468

Gene: ERCC2

Linked Data

• dbSNP Id: rs935423493
• gnomAD v2: 19-45857006-G-A
• gnomAD v3: 19-45353748-G-A
• gnomAD v4: 19-45353748-G-A
• MyVariant Identifiers: chr19:g.45857006G>A (hg19) ; chr19:g.45353748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353748G>A , CM000681.2:g.45353748G>A	GRCh38
NC_000019.9:g.45857006G>A , CM000681.1:g.45857006G>A	GRCh37
NC_000019.8:g.50548846G>A	NCBI36
NG_007067.2:g.21840C>T , LRG_461:g.21840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-414C>T	ENSP00000375808.4:n.1666-414C>T
ENST00000682414.1:c.1666-414C>T	ENSP00000507019.1:n.1666-414C>T
ENST00000682508.1:n.1695-414C>T
ENST00000684218.1:c.*924-414C>T	ENSP00000507804.1:n.*924-414C>T
ENST00000684264.1:n.1222-414C>T
ENST00000684407.1:c.1543-414C>T	ENSP00000507775.1:n.1543-414C>T
ENST00000684458.1:c.*152-414C>T	ENSP00000508260.1:n.*152-414C>T
ENST00000684468.1:n.1378-414C>T
ENST00000391945.10:c.1666-414C>T MANE Select	ENSP00000375809.4:n.1666-414C>T
ENST00000587376.6:c.725-414C>T
ENST00000646507.1:n.1763-414C>T
ENST00000391941.6:c.1594-414C>T	ENSP00000375805.2:n.1594-414C>T
ENST00000391942.6:n.837-414C>T
ENST00000391944.7:c.1432-414C>T	ENSP00000375808.3:n.1432-414C>T
ENST00000391945.8:c.1666-414C>T	ENSP00000375809.3:n.1666-414C>T
ENST00000587376.5:c.725-414C>T
ENST00000588652.5:n.1754-414C>T
NM_000400.3:c.1666-414C>T , LRG_461t1:c.1666-414C>T	NP_000391.1:n.1666-414C>T
XM_011526611.1:c.1588-414C>T	XP_011524913.1:n.1588-414C>T
XR_935763.1:n.1649-414C>T
XM_011526611.2:c.1588-414C>T	XP_011524913.1:n.1588-414C>T
XM_017026467.1:c.1543-414C>T	XP_016881956.1:n.1543-414C>T
XR_001753633.2:n.1713-414C>T
XR_001753634.2:n.1649-414C>T
NM_000400.4:c.1666-414C>T MANE Select	NP_000391.1:n.1666-414C>T