Canonical Allele Identifier: CA9513047

Gene: ERCC2

Linked Data

• dbSNP Id: rs746670905
• ExAC: 19:45856122 TGGGACA / T
• gnomAD v2: 19-45856122-TGGGACA-T
• gnomAD v3: 19-45352864-TGGGACA-T
• gnomAD v4: 19-45352864-TGGGACA-T
• MyVariant Identifiers: chr19:g.45856123_45856128del (hg19) ; chr19:g.45352865_45352870del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352872_45352877del , CM000681.2:g.45352872_45352877del	GRCh38
NC_000019.9:g.45856130_45856135del , CM000681.1:g.45856130_45856135del	GRCh37
NC_000019.8:g.50547970_50547975del	NCBI36
NG_007067.2:g.22718_22723del , LRG_461:g.22718_22723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-54_1832-49del	ENSP00000375808.4:n.1832-54_1832-49del
ENST00000682414.1:c.1832-54_1832-49del	ENSP00000507019.1:n.1832-54_1832-49del
ENST00000682508.1:n.1861-54_1861-49del
ENST00000684218.1:c.*1090-54_*1090-49del	ENSP00000507804.1:n.*1090-54_*1090-49del
ENST00000684264.1:n.1388-54_1388-49del
ENST00000684407.1:c.1709-54_1709-49del	ENSP00000507775.1:n.1709-54_1709-49del
ENST00000684458.1:c.*318-54_*318-49del	ENSP00000508260.1:n.*318-54_*318-49del
ENST00000684468.1:n.1544-54_1544-49del
ENST00000391945.10:c.1832-54_1832-49del MANE Select	ENSP00000375809.4:n.1832-54_1832-49del
ENST00000646507.1:n.1929-54_1929-49del
ENST00000391941.6:c.1760-54_1760-49del	ENSP00000375805.2:n.1760-54_1760-49del
ENST00000391942.6:n.1003-54_1003-49del
ENST00000391944.7:c.1598-54_1598-49del	ENSP00000375808.3:n.1598-54_1598-49del
ENST00000391945.8:c.1832-54_1832-49del	ENSP00000375809.3:n.1832-54_1832-49del
ENST00000588652.5:n.1920-54_1920-49del
NM_000400.3:c.1832-54_1832-49del , LRG_461t1:c.1832-54_1832-49del	NP_000391.1:n.1832-54_1832-49del
XM_011526611.1:c.1754-54_1754-49del	XP_011524913.1:n.1754-54_1754-49del
XM_011526611.2:c.1754-54_1754-49del	XP_011524913.1:n.1754-54_1754-49del
XM_017026467.1:c.1709-54_1709-49del	XP_016881956.1:n.1709-54_1709-49del
XR_001753633.2:n.1879-54_1879-49del
XR_001753634.2:n.1815-54_1815-49del
NM_000400.4:c.1832-54_1832-49del MANE Select	NP_000391.1:n.1832-54_1832-49del