Canonical Allele Identifier: CA347148954

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439852C>G (hg19) ; chr2:g.70212720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212720C>G , CM000664.2:g.70212720C>G	GRCh38
NC_000002.11:g.70439852C>G , CM000664.1:g.70439852C>G	GRCh37
NC_000002.10:g.70293356C>G	NCBI36
NG_029967.1:g.40928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1160G>C (TIA1) MANE Select	ENSP00000401371.2:p.Ter387Ser
ENST00000282574.8:c.1157G>C (TIA1)	ENSP00000282574.4:p.Ter386Ser
ENST00000415783.6:c.1127G>C (TIA1)	ENSP00000404023.2:p.Ter376Ser
ENST00000433529.6:c.1160G>C (TIA1)	ENSP00000401371.2:p.Ter387Ser
ENST00000445587.5:c.857G>C (TIA1)	ENSP00000399567.1:p.Ter286Ser
ENST00000470096.1:n.212-30723G>C (C2orf42)
ENST00000486392.5:n.470G>C (TIA1)
NM_022037.2:c.1127G>C (TIA1)	NP_071320.2:p.Ter376Ser
NM_022173.2:c.1160G>C (TIA1)	NP_071505.2:p.Ter387Ser
XM_005264527.1:c.1124G>C (TIA1)	XP_005264584.1:p.Ter375Ser
XM_005264528.3:c.965G>C (TIA1)	XP_005264585.1:p.Ter322Ser
XM_005264531.1:c.857G>C (TIA1)	XP_005264588.1:p.Ter286Ser
XM_011533077.1:c.1157G>C (TIA1)	XP_011531379.1:p.Ter386Ser
XM_011533078.1:c.860G>C (TIA1)	XP_011531380.1:p.Ter287Ser
XM_011533079.1:c.860G>C (TIA1)	XP_011531381.1:p.Ter287Ser
XM_011533080.1:c.860G>C (TIA1)	XP_011531382.1:p.Ter287Ser
XM_011533081.1:c.860G>C (TIA1)	XP_011531383.1:p.Ter287Ser
XM_011533082.1:c.860G>C (TIA1)	XP_011531384.1:p.Ter287Ser
XM_011533083.1:c.740G>C (TIA1)	XP_011531385.1:p.Ter247Ser
XR_244955.1:n.1517G>C (TIA1)
XR_939714.1:n.1496G>C (TIA1)
NM_001351508.1:c.1157G>C (TIA1)	NP_001338437.1:p.Ter386Ser
NM_001351509.1:c.1133G>C (TIA1)	NP_001338438.1:p.Ter378Ser
NM_001351510.1:c.1124G>C (TIA1)	NP_001338439.1:p.Ter375Ser
NM_001351511.1:c.1049G>C (TIA1)	NP_001338440.1:p.Ter350Ser
NM_001351512.1:c.1022G>C (TIA1)	NP_001338441.1:p.Ter341Ser
NM_001351513.1:c.1016G>C (TIA1)	NP_001338442.1:p.Ter339Ser
NM_001351514.1:c.932G>C (TIA1)	NP_001338443.1:p.Ter311Ser
NM_001351515.1:c.857G>C (TIA1)	NP_001338444.1:p.Ter286Ser
NM_001351517.1:c.737G>C (TIA1)	NP_001338446.1:p.Ter246Ser
NM_001351524.1:c.740G>C (TIA1)	NP_001338453.1:p.Ter247Ser
NM_001351525.1:c.740G>C (TIA1)	NP_001338454.1:p.Ter247Ser
NM_022037.3:c.1127G>C (TIA1)	NP_071320.2:p.Ter376Ser
NM_022173.3:c.1160G>C (TIA1)	NP_071505.2:p.Ter387Ser
NR_147216.1:n.1517G>C (TIA1)
NR_147217.1:n.1398G>C (TIA1)
NR_147218.1:n.1395G>C (TIA1)
NR_147219.1:n.1632G>C (TIA1)
NR_147220.1:n.1618G>C (TIA1)
NR_147221.1:n.1689G>C (TIA1)
NR_147222.1:n.1684G>C (TIA1)
NR_147223.1:n.1742G>C (TIA1)
NR_147224.1:n.1620G>C (TIA1)
NR_147225.1:n.1775G>C (TIA1)
NR_147226.1:n.1623G>C (TIA1)
NR_147227.1:n.1693G>C (TIA1)
NR_147228.1:n.1656G>C (TIA1)
NR_147229.1:n.1599G>C (TIA1)
NR_147230.1:n.1841G>C (TIA1)
NR_147231.1:n.1653G>C (TIA1)
NR_147232.1:n.1526G>C (TIA1)
XM_005264528.5:c.965G>C (TIA1)	XP_005264585.1:p.Ter322Ser
XM_005264531.2:c.857G>C (TIA1)	XP_005264588.1:p.Ter286Ser
XM_011533082.2:c.860G>C (TIA1)	XP_011531384.1:p.Ter287Ser
XM_017004792.1:c.860G>C (TIA1)	XP_016860281.1:p.Ter287Ser
XM_017004793.2:c.860G>C (TIA1)	XP_016860282.1:p.Ter287Ser
XM_017004794.1:c.860G>C (TIA1)	XP_016860283.1:p.Ter287Ser
XM_017004795.1:c.857G>C (TIA1)	XP_016860284.1:p.Ter286Ser
XM_017004796.1:c.740G>C (TIA1)	XP_016860285.1:p.Ter247Ser
XM_017004800.1:c.740G>C (TIA1)	XP_016860289.1:p.Ter247Ser
XM_024453063.1:c.740G>C (TIA1)	XP_024308831.1:p.Ter247Ser
XM_024453064.1:c.740G>C (TIA1)	XP_024308832.1:p.Ter247Ser
XM_024453065.1:c.740G>C (TIA1)	XP_024308833.1:p.Ter247Ser
XM_024453066.1:c.740G>C (TIA1)	XP_024308834.1:p.Ter247Ser
XM_024453067.1:c.737G>C (TIA1)	XP_024308835.1:p.Ter246Ser
XR_002959329.1:n.4744G>C (TIA1)
XR_002959330.1:n.2578G>C (TIA1)
XR_002959331.1:n.4741G>C (TIA1)
XR_002959332.1:n.2284G>C (TIA1)
NM_022173.4:c.1160G>C (TIA1) MANE Select	NP_071505.2:p.Ter387Ser
NM_001351508.2:c.1157G>C (TIA1)	NP_001338437.1:p.Ter386Ser
NM_001351509.2:c.1133G>C (TIA1)	NP_001338438.1:p.Ter378Ser
NM_001351510.2:c.1124G>C (TIA1)	NP_001338439.1:p.Ter375Ser
NM_001351514.2:c.932G>C (TIA1)	NP_001338443.1:p.Ter311Ser
NM_001351515.2:c.857G>C (TIA1)	NP_001338444.1:p.Ter286Ser
NM_001351517.2:c.737G>C (TIA1)	NP_001338446.1:p.Ter246Ser
NM_001351524.2:c.740G>C (TIA1)	NP_001338453.1:p.Ter247Ser
NM_001351525.2:c.740G>C (TIA1)	NP_001338454.1:p.Ter247Ser
NM_022037.4:c.1127G>C (TIA1)	NP_071320.2:p.Ter376Ser
NR_147219.2:n.1467G>C (TIA1)
NR_147220.2:n.1453G>C (TIA1)
NR_147221.2:n.1524G>C (TIA1)
NR_147222.2:n.1519G>C (TIA1)
NR_147223.2:n.1577G>C (TIA1)
NR_147224.2:n.1455G>C (TIA1)
NR_147225.2:n.1610G>C (TIA1)
NR_147226.2:n.1458G>C (TIA1)
NR_147227.2:n.1528G>C (TIA1)
NR_147228.2:n.1491G>C (TIA1)
NR_147229.2:n.1434G>C (TIA1)
NR_147230.2:n.1676G>C (TIA1)
NR_147231.2:n.1488G>C (TIA1)
NR_147232.2:n.1361G>C (TIA1)