Canonical Allele Identifier: CA320572

Gene: AGK

Linked Data

• ClinVar Variation Id: 214074
• ClinVar RCV Id: RCV000196150 ; RCV002517194
• dbSNP Id: rs199778260
• ExAC: 7:141296406 G / T
• gnomAD v2: 7-141296406-G-T
• gnomAD v3: 7-141596606-G-T
• gnomAD v4: 7-141596606-G-T
• MyVariant Identifiers: chr7:g.141296406G>T (hg19) ; chr7:g.141596606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141596606G>T , CM000669.2:g.141596606G>T	GRCh38
NC_000007.13:g.141296406G>T , CM000669.1:g.141296406G>T	GRCh37
NC_000007.12:g.140942875G>T	NCBI36
NG_032079.1:g.50329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.186G>T	ENSP00000497039.1:p.Lys62Asn
ENST00000647898.1:n.76G>T
ENST00000648068.1:c.186G>T	ENSP00000498112.1:p.Lys62Asn
ENST00000648395.1:c.-91G>T	ENSP00000497666.1:n.-91G>T
ENST00000648489.1:n.217G>T
ENST00000648690.1:c.-91G>T	ENSP00000497945.1:n.-91G>T
ENST00000649014.1:c.186G>T	ENSP00000497984.1:p.Lys62Asn
ENST00000649286.2:c.186G>T MANE Select	ENSP00000497280.1:p.Lys62Asn
ENST00000649365.1:c.*194G>T	ENSP00000496835.1:n.*194G>T
ENST00000649538.1:n.214G>T
ENST00000649790.1:c.-91G>T	ENSP00000498193.1:n.-91G>T
ENST00000649914.1:c.174G>T	ENSP00000497848.1:p.Lys58Asn
ENST00000650006.1:c.186G>T	ENSP00000497457.1:p.Lys62Asn
ENST00000650365.1:c.*5G>T	ENSP00000497358.1:n.*5G>T
ENST00000650547.1:c.186G>T	ENSP00000496789.1:p.Lys62Asn
ENST00000355413.8:c.186G>T	ENSP00000347581.4:p.Lys62Asn
ENST00000465241.5:n.197G>T
ENST00000473247.5:c.102G>T	ENSP00000420776.1:p.Lys34Asn
ENST00000473884.5:c.*5G>T	ENSP00000420540.1:n.*5G>T
ENST00000494688.1:c.186G>T	ENSP00000418101.1:p.Lys62Asn
ENST00000495028.5:n.225G>T
ENST00000496784.1:n.187G>T
ENST00000629555.2:c.186G>T	ENSP00000487274.1:p.Lys62Asn
NM_018238.3:c.186G>T	NP_060708.1:p.Lys62Asn
XM_005250023.3:c.186G>T	XP_005250080.1:p.Lys62Asn
XM_011516397.1:c.186G>T	XP_011514699.1:p.Lys62Asn
NM_001364948.1:c.186G>T	NP_001351877.1:p.Lys62Asn
NM_018238.4:c.186G>T MANE Select	NP_060708.1:p.Lys62Asn
XM_011516397.3:c.186G>T	XP_011514699.1:p.Lys62Asn
XM_024446835.1:c.186G>T	XP_024302603.1:p.Lys62Asn
NM_001364948.2:c.186G>T	NP_001351877.1:p.Lys62Asn
NM_001364948.3:c.186G>T	NP_001351877.1:p.Lys62Asn