Canonical Allele Identifier: CA349276409

Gene: DCAF17

Linked Data

• ClinVar Variation Id: 1717639
• ClinVar RCV Id: RCV002296518
• dbSNP Id: rs1694439191
• MyVariant Identifiers: chr2:g.172300064A>T (hg19) ; chr2:g.171443554A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171443554A>T , CM000664.2:g.171443554A>T	GRCh38
NC_000002.11:g.172300064A>T , CM000664.1:g.172300064A>T	GRCh37
NC_000002.10:g.172008310A>T	NCBI36
NG_013038.1:g.14304A>T
NG_013038.2:g.14304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375255.8:c.262A>T MANE Select	ENSP00000364404.3:p.Met88Leu
ENST00000375255.7:c.262A>T	ENSP00000364404.3:p.Met88Leu
ENST00000436317.1:c.176A>T
ENST00000468592.5:n.190A>T
ENST00000480855.1:n.418A>T
ENST00000490217.5:n.432A>T
ENST00000495925.5:n.79A>T
ENST00000539783.5:c.262A>T	ENSP00000442238.1:p.Met88Leu
NM_001164821.1:c.262A>T	NP_001158293.1:p.Met88Leu
NM_025000.3:c.262A>T	NP_079276.2:p.Met88Leu
NR_028482.1:n.589A>T
XM_006712766.2:c.262A>T	XP_006712829.1:p.Met88Leu
XM_006712767.1:c.1A>T	XP_006712830.1:p.Met1Leu
XM_006712768.1:c.1A>T	XP_006712831.1:p.Met1Leu
XM_006712772.2:c.262A>T	XP_006712835.1:p.Met88Leu
XM_011511881.1:c.262A>T	XP_011510183.1:p.Met88Leu
XM_011511882.1:c.262A>T	XP_011510184.1:p.Met88Leu
XM_011511883.1:c.262A>T	XP_011510185.1:p.Met88Leu
XM_011511884.1:c.262A>T	XP_011510186.1:p.Met88Leu
XM_011511885.1:c.262A>T	XP_011510187.1:p.Met88Leu
XR_427113.2:n.584A>T
XR_923029.1:n.584A>T
XR_923030.1:n.584A>T
XM_017004995.1:c.262A>T	XP_016860484.1:p.Met88Leu
XM_017004996.1:c.262A>T	XP_016860485.1:p.Met88Leu
XM_017004997.1:c.262A>T	XP_016860486.1:p.Met88Leu
XM_017004998.1:c.-769A>T	XP_016860487.1:n.-769A>T
XM_017004999.1:c.262A>T	XP_016860488.1:p.Met88Leu
XM_017005000.1:c.262A>T	XP_016860489.1:p.Met88Leu
XM_017005001.2:c.262A>T	XP_016860490.1:p.Met88Leu
XM_017005002.1:c.-535A>T	XP_016860491.1:n.-535A>T
XR_001738961.1:n.584A>T
NM_025000.4:c.262A>T MANE Select	NP_079276.2:p.Met88Leu
NR_028482.2:n.614A>T
NM_001164821.2:c.262A>T	NP_001158293.1:p.Met88Leu