Canonical Allele Identifier: CA308953026

Gene: ERCC2

Linked Data

• dbSNP Id: rs576481455
• gnomAD v2: 19-45856743-CAGTTCTTT-C
• gnomAD v3: 19-45353485-CAGTTCTTT-C
• gnomAD v4: 19-45353485-CAGTTCTTT-C
• MyVariant Identifiers: chr19:g.45856744_45856751del (hg19) ; chr19:g.45353486_45353493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353486_45353493del , CM000681.2:g.45353486_45353493del	GRCh38
NC_000019.9:g.45856744_45856751del , CM000681.1:g.45856744_45856751del	GRCh37
NC_000019.8:g.50548584_50548591del	NCBI36
NG_007067.2:g.22095_22102del , LRG_461:g.22095_22102del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-159_1666-152del	ENSP00000375808.4:n.1666-159_1666-152del
ENST00000682414.1:c.1666-159_1666-152del	ENSP00000507019.1:n.1666-159_1666-152del
ENST00000682508.1:n.1695-159_1695-152del
ENST00000684218.1:c.*924-159_*924-152del	ENSP00000507804.1:n.*924-159_*924-152del
ENST00000684264.1:n.1222-159_1222-152del
ENST00000684407.1:c.1543-159_1543-152del	ENSP00000507775.1:n.1543-159_1543-152del
ENST00000684458.1:c.*152-159_*152-152del	ENSP00000508260.1:n.*152-159_*152-152del
ENST00000684468.1:n.1378-159_1378-152del
ENST00000391945.10:c.1666-159_1666-152del MANE Select	ENSP00000375809.4:n.1666-159_1666-152del
ENST00000587376.6:c.725-159_725-152del
ENST00000646507.1:n.1763-159_1763-152del
ENST00000391941.6:c.1594-159_1594-152del	ENSP00000375805.2:n.1594-159_1594-152del
ENST00000391942.6:n.837-159_837-152del
ENST00000391944.7:c.1432-159_1432-152del	ENSP00000375808.3:n.1432-159_1432-152del
ENST00000391945.8:c.1666-159_1666-152del	ENSP00000375809.3:n.1666-159_1666-152del
ENST00000587376.5:c.725-159_725-152del
ENST00000588652.5:n.1754-159_1754-152del
NM_000400.3:c.1666-159_1666-152del , LRG_461t1:c.1666-159_1666-152del	NP_000391.1:n.1666-159_1666-152del
XM_011526611.1:c.1588-159_1588-152del	XP_011524913.1:n.1588-159_1588-152del
XR_935763.1:n.1649-159_1649-152del
XM_011526611.2:c.1588-159_1588-152del	XP_011524913.1:n.1588-159_1588-152del
XM_017026467.1:c.1543-159_1543-152del	XP_016881956.1:n.1543-159_1543-152del
XR_001753633.2:n.1713-159_1713-152del
XR_001753634.2:n.1649-159_1649-152del
NM_000400.4:c.1666-159_1666-152del MANE Select	NP_000391.1:n.1666-159_1666-152del