Canonical Allele Identifier: CA430200609
Gene: AGPS HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.178326722T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177461994T>C , CM000664.2:g.177461994T>C GRCh38
NC_000002.11:g.178326722T>C , CM000664.1:g.178326722T>C GRCh37
NC_000002.10:g.178034968T>C NCBI36
NG_008968.1:g.74252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264167.11:c.972T>C MANE Select ENSP00000264167.4:p.Asn324=
ENST00000460342.2:n.2384T>C
ENST00000637633.2:c.972T>C ENSP00000490844.2:p.Asn324=
ENST00000642466.2:c.972T>C ENSP00000494433.2:p.Asn324=
ENST00000679421.1:n.2201T>C
ENST00000679459.1:c.972T>C ENSP00000506137.1:p.Asn324=
ENST00000679478.1:c.702T>C ENSP00000506484.1:p.Asn234=
ENST00000679639.1:n.775T>C
ENST00000679994.1:c.702T>C ENSP00000504957.1:p.Asn234=
ENST00000680028.1:n.2336T>C
ENST00000680155.1:c.702T>C ENSP00000505333.1:p.Asn234=
ENST00000680705.1:n.1016T>C
ENST00000680770.1:c.972T>C ENSP00000505536.1:p.Asn324=
ENST00000680893.1:c.*220T>C ENSP00000505929.1:n.*220T>C
ENST00000680910.1:n.1002T>C
ENST00000681028.1:c.702T>C ENSP00000506323.1:p.Asn234=
ENST00000681032.1:c.*350T>C ENSP00000505205.1:n.*350T>C
ENST00000681449.1:c.702T>C ENSP00000505342.1:p.Asn234=
ENST00000681565.1:c.972T>C ENSP00000505620.1:p.Asn324=
ENST00000681752.1:c.*742T>C ENSP00000504994.1:n.*742T>C
ENST00000681891.1:n.4716T>C
ENST00000264167.8:c.972T>C ENSP00000264167.4:p.Asn324=
ENST00000409888.1:c.350+41636T>C ENSP00000386688.1:n.350+41636T>C
NM_003659.3:c.972T>C NP_003650.1:p.Asn324=
XM_011512041.1:c.702T>C XP_011510343.1:p.Asn234=
XM_011512042.1:c.702T>C XP_011510344.1:p.Asn234=
XM_011512043.1:c.237T>C XP_011510345.1:p.Asn79=
XM_011512044.1:c.972T>C XP_011510346.1:p.Asn324=
XM_011512045.1:c.972T>C XP_011510347.1:p.Asn324=
XM_011512041.2:c.702T>C XP_011510343.1:p.Asn234=
XM_011512043.2:c.237T>C XP_011510345.1:p.Asn79=
XR_001739007.2:n.989T>C
NM_003659.4:c.972T>C MANE Select NP_003650.1:p.Asn324=