Canonical Allele Identifier: CA633479959

Gene: ERCC2

Linked Data

• dbSNP Id: rs1440826635
• gnomAD v2: 19-45855970-ACTGTGGGACTCC-A
• gnomAD v3: 19-45352712-ACTGTGGGACTCC-A
• gnomAD v4: 19-45352712-ACTGTGGGACTCC-A
• MyVariant Identifiers: chr19:g.45855971_45855982del (hg19) ; chr19:g.45352713_45352724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352716_45352727del , CM000681.2:g.45352716_45352727del	GRCh38
NC_000019.9:g.45855974_45855985del , CM000681.1:g.45855974_45855985del	GRCh37
NC_000019.8:g.50547814_50547825del	NCBI36
NG_007067.2:g.22864_22875del , LRG_461:g.22864_22875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1902+22_1902+33del	ENSP00000375808.4:n.1902+22_1902+33del
ENST00000682414.1:c.1902+22_1902+33del	ENSP00000507019.1:n.1902+22_1902+33del
ENST00000682508.1:n.1931+22_1931+33del
ENST00000684218.1:c.*1160+22_*1160+33del	ENSP00000507804.1:n.*1160+22_*1160+33del
ENST00000684264.1:n.1458+22_1458+33del
ENST00000684407.1:c.1779+22_1779+33del	ENSP00000507775.1:n.1779+22_1779+33del
ENST00000684458.1:c.*388+22_*388+33del	ENSP00000508260.1:n.*388+22_*388+33del
ENST00000684468.1:n.1614+22_1614+33del
ENST00000391945.10:c.1902+22_1902+33del MANE Select	ENSP00000375809.4:n.1902+22_1902+33del
ENST00000646507.1:n.1999+22_1999+33del
ENST00000391941.6:c.1830+22_1830+33del	ENSP00000375805.2:n.1830+22_1830+33del
ENST00000391942.6:n.1073+22_1073+33del
ENST00000391944.7:c.1668+22_1668+33del	ENSP00000375808.3:n.1668+22_1668+33del
ENST00000391945.8:c.1902+22_1902+33del	ENSP00000375809.3:n.1902+22_1902+33del
ENST00000588652.5:n.1990+22_1990+33del
NM_000400.3:c.1902+22_1902+33del , LRG_461t1:c.1902+22_1902+33del	NP_000391.1:n.1902+22_1902+33del
XM_011526611.1:c.1824+22_1824+33del	XP_011524913.1:n.1824+22_1824+33del
XM_011526611.2:c.1824+22_1824+33del	XP_011524913.1:n.1824+22_1824+33del
XM_017026467.1:c.1779+22_1779+33del	XP_016881956.1:n.1779+22_1779+33del
XR_001753633.2:n.1949+22_1949+33del
XR_001753634.2:n.1885+22_1885+33del
NM_000400.4:c.1902+22_1902+33del MANE Select	NP_000391.1:n.1902+22_1902+33del