Canonical Allele Identifier: CA1697411

Gene: TIA1 C2orf42

Linked Data

• ClinVar Variation Id: 1564800
• ClinVar RCV Id: RCV002218024
• dbSNP Id: rs202093855
• ExAC: 2:70439984 G / A
• gnomAD v2: 2-70439984-G-A
• gnomAD v3: 2-70212852-G-A
• gnomAD v4: 2-70212852-G-A
• MyVariant Identifiers: chr2:g.70439984G>A (hg19) ; chr2:g.70212852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212852G>A , CM000664.2:g.70212852G>A	GRCh38
NC_000002.11:g.70439984G>A , CM000664.1:g.70439984G>A	GRCh37
NC_000002.10:g.70293488G>A	NCBI36
NG_029967.1:g.40796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1035-7C>T (TIA1) MANE Select	ENSP00000401371.2:n.1035-7C>T
ENST00000282574.8:c.1032-7C>T (TIA1)	ENSP00000282574.4:n.1032-7C>T
ENST00000415783.6:c.1002-7C>T (TIA1)	ENSP00000404023.2:n.1002-7C>T
ENST00000433529.6:c.1035-7C>T (TIA1)	ENSP00000401371.2:n.1035-7C>T
ENST00000445587.5:c.732-7C>T (TIA1)	ENSP00000399567.1:n.732-7C>T
ENST00000470096.1:n.212-30855C>T (C2orf42)
ENST00000486392.5:n.345-7C>T (TIA1)
ENST00000495774.1:n.437-7C>T (TIA1)
NM_022037.2:c.1002-7C>T (TIA1)	NP_071320.2:n.1002-7C>T
NM_022173.2:c.1035-7C>T (TIA1)	NP_071505.2:n.1035-7C>T
XM_005264527.1:c.999-7C>T (TIA1)	XP_005264584.1:n.999-7C>T
XM_005264528.3:c.840-7C>T (TIA1)	XP_005264585.1:n.840-7C>T
XM_005264531.1:c.732-7C>T (TIA1)	XP_005264588.1:n.732-7C>T
XM_011533077.1:c.1032-7C>T (TIA1)	XP_011531379.1:n.1032-7C>T
XM_011533078.1:c.735-7C>T (TIA1)	XP_011531380.1:n.735-7C>T
XM_011533079.1:c.735-7C>T (TIA1)	XP_011531381.1:n.735-7C>T
XM_011533080.1:c.735-7C>T (TIA1)	XP_011531382.1:n.735-7C>T
XM_011533081.1:c.735-7C>T (TIA1)	XP_011531383.1:n.735-7C>T
XM_011533082.1:c.735-7C>T (TIA1)	XP_011531384.1:n.735-7C>T
XM_011533083.1:c.615-7C>T (TIA1)	XP_011531385.1:n.615-7C>T
XR_244955.1:n.1392-7C>T (TIA1)
XR_939714.1:n.1371-7C>T (TIA1)
NM_001351508.1:c.1032-7C>T (TIA1)	NP_001338437.1:n.1032-7C>T
NM_001351509.1:c.1008-7C>T (TIA1)	NP_001338438.1:n.1008-7C>T
NM_001351510.1:c.999-7C>T (TIA1)	NP_001338439.1:n.999-7C>T
NM_001351511.1:c.924-7C>T (TIA1)	NP_001338440.1:n.924-7C>T
NM_001351512.1:c.897-7C>T (TIA1)	NP_001338441.1:n.897-7C>T
NM_001351513.1:c.891-7C>T (TIA1)	NP_001338442.1:n.891-7C>T
NM_001351514.1:c.807-7C>T (TIA1)	NP_001338443.1:n.807-7C>T
NM_001351515.1:c.732-7C>T (TIA1)	NP_001338444.1:n.732-7C>T
NM_001351517.1:c.612-7C>T (TIA1)	NP_001338446.1:n.612-7C>T
NM_001351524.1:c.615-7C>T (TIA1)	NP_001338453.1:n.615-7C>T
NM_001351525.1:c.615-7C>T (TIA1)	NP_001338454.1:n.615-7C>T
NM_022037.3:c.1002-7C>T (TIA1)	NP_071320.2:n.1002-7C>T
NM_022173.3:c.1035-7C>T (TIA1)	NP_071505.2:n.1035-7C>T
NR_147216.1:n.1392-7C>T (TIA1)
NR_147217.1:n.1273-7C>T (TIA1)
NR_147218.1:n.1270-7C>T (TIA1)
NR_147219.1:n.1507-7C>T (TIA1)
NR_147220.1:n.1493-7C>T (TIA1)
NR_147221.1:n.1564-7C>T (TIA1)
NR_147222.1:n.1559-7C>T (TIA1)
NR_147223.1:n.1617-7C>T (TIA1)
NR_147224.1:n.1495-7C>T (TIA1)
NR_147225.1:n.1650-7C>T (TIA1)
NR_147226.1:n.1498-7C>T (TIA1)
NR_147227.1:n.1568-7C>T (TIA1)
NR_147228.1:n.1531-7C>T (TIA1)
NR_147229.1:n.1474-7C>T (TIA1)
NR_147230.1:n.1716-7C>T (TIA1)
NR_147231.1:n.1528-7C>T (TIA1)
NR_147232.1:n.1401-7C>T (TIA1)
XM_005264528.5:c.840-7C>T (TIA1)	XP_005264585.1:n.840-7C>T
XM_005264531.2:c.732-7C>T (TIA1)	XP_005264588.1:n.732-7C>T
XM_011533082.2:c.735-7C>T (TIA1)	XP_011531384.1:n.735-7C>T
XM_017004792.1:c.735-7C>T (TIA1)	XP_016860281.1:n.735-7C>T
XM_017004793.2:c.735-7C>T (TIA1)	XP_016860282.1:n.735-7C>T
XM_017004794.1:c.735-7C>T (TIA1)	XP_016860283.1:n.735-7C>T
XM_017004795.1:c.732-7C>T (TIA1)	XP_016860284.1:n.732-7C>T
XM_017004796.1:c.615-7C>T (TIA1)	XP_016860285.1:n.615-7C>T
XM_017004800.1:c.615-7C>T (TIA1)	XP_016860289.1:n.615-7C>T
XM_024453063.1:c.615-7C>T (TIA1)	XP_024308831.1:n.615-7C>T
XM_024453064.1:c.615-7C>T (TIA1)	XP_024308832.1:n.615-7C>T
XM_024453065.1:c.615-7C>T (TIA1)	XP_024308833.1:n.615-7C>T
XM_024453066.1:c.615-7C>T (TIA1)	XP_024308834.1:n.615-7C>T
XM_024453067.1:c.612-7C>T (TIA1)	XP_024308835.1:n.612-7C>T
XR_002959329.1:n.4619-7C>T (TIA1)
XR_002959330.1:n.2453-7C>T (TIA1)
XR_002959331.1:n.4616-7C>T (TIA1)
XR_002959332.1:n.2159-7C>T (TIA1)
NM_022173.4:c.1035-7C>T (TIA1) MANE Select	NP_071505.2:n.1035-7C>T
NM_001351508.2:c.1032-7C>T (TIA1)	NP_001338437.1:n.1032-7C>T
NM_001351509.2:c.1008-7C>T (TIA1)	NP_001338438.1:n.1008-7C>T
NM_001351510.2:c.999-7C>T (TIA1)	NP_001338439.1:n.999-7C>T
NM_001351514.2:c.807-7C>T (TIA1)	NP_001338443.1:n.807-7C>T
NM_001351515.2:c.732-7C>T (TIA1)	NP_001338444.1:n.732-7C>T
NM_001351517.2:c.612-7C>T (TIA1)	NP_001338446.1:n.612-7C>T
NM_001351524.2:c.615-7C>T (TIA1)	NP_001338453.1:n.615-7C>T
NM_001351525.2:c.615-7C>T (TIA1)	NP_001338454.1:n.615-7C>T
NM_022037.4:c.1002-7C>T (TIA1)	NP_071320.2:n.1002-7C>T
NR_147219.2:n.1342-7C>T (TIA1)
NR_147220.2:n.1328-7C>T (TIA1)
NR_147221.2:n.1399-7C>T (TIA1)
NR_147222.2:n.1394-7C>T (TIA1)
NR_147223.2:n.1452-7C>T (TIA1)
NR_147224.2:n.1330-7C>T (TIA1)
NR_147225.2:n.1485-7C>T (TIA1)
NR_147226.2:n.1333-7C>T (TIA1)
NR_147227.2:n.1403-7C>T (TIA1)
NR_147228.2:n.1366-7C>T (TIA1)
NR_147229.2:n.1309-7C>T (TIA1)
NR_147230.2:n.1551-7C>T (TIA1)
NR_147231.2:n.1363-7C>T (TIA1)
NR_147232.2:n.1236-7C>T (TIA1)