Canonical Allele Identifier: CA2624345129

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240340-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240340G>C , CM000676.2:g.24240340G>C	GRCh38
NC_000014.8:g.24709546G>C , CM000676.1:g.24709546G>C	GRCh37
NC_000014.7:g.23779386G>C	NCBI36
NG_016650.1:g.7335C>G
NG_054634.1:g.12924G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1443C>G
ENST00000557921.3:c.*75C>G	ENSP00000453157.3:n.*75C>G
ENST00000699682.1:n.1530C>G
ENST00000699683.1:n.1580C>G
ENST00000699684.1:c.*733C>G	ENSP00000514523.1:n.*733C>G
ENST00000699685.1:n.1344C>G
ENST00000699686.1:c.*75C>G	ENSP00000514524.1:n.*75C>G
ENST00000699687.1:c.*75C>G	ENSP00000514525.1:n.*75C>G
ENST00000699688.1:n.1340C>G
ENST00000699689.1:n.1696C>G
ENST00000699690.1:n.1893C>G
ENST00000699691.1:n.2037C>G
ENST00000699693.1:n.1479-10C>G
ENST00000699694.1:n.1799C>G
ENST00000699695.1:c.*434-10C>G	ENSP00000514526.1:n.*434-10C>G
ENST00000699696.1:n.1443C>G
ENST00000699697.1:c.1062-10C>G	ENSP00000514527.1:n.1062-10C>G
ENST00000699698.1:n.983-10C>G
ENST00000699699.1:n.1464C>G
ENST00000699700.1:n.1587C>G
ENST00000699701.1:c.*520C>G	ENSP00000514528.1:n.*520C>G
ENST00000267415.12:c.1062-10C>G MANE Select	ENSP00000267415.7:n.1062-10C>G
ENST00000646753.1:c.957-10C>G	ENSP00000494065.1:n.957-10C>G
ENST00000267415.11:c.1062-10C>G	ENSP00000267415.7:n.1062-10C>G
ENST00000399423.8:c.*75C>G	ENSP00000382350.4:n.*75C>G
ENST00000557915.1:n.259C>G
ENST00000558566.1:c.*512C>G	ENSP00000453025.1:n.*512C>G
ENST00000559969.5:c.898C>G
ENST00000560019.5:c.57-10C>G	ENSP00000453113.1:n.57-10C>G
ENST00000626689.2:c.*434-10C>G	ENSP00000486681.1:n.*434-10C>G
NM_001099274.1:c.1062-10C>G	NP_001092744.1:n.1062-10C>G
NM_012461.2:c.*75C>G	NP_036593.2:n.*75C>G
XM_005267528.2:c.1062-10C>G	XP_005267585.1:n.1062-10C>G
XM_005267529.2:c.957-10C>G	XP_005267586.1:n.957-10C>G
NM_001099274.2:c.1062-10C>G	NP_001092744.1:n.1062-10C>G
NM_001363668.1:c.957-10C>G	NP_001350597.1:n.957-10C>G
NM_012461.3:c.*75C>G	NP_036593.2:n.*75C>G
XM_011536642.2:c.*520C>G	XP_011534944.1:n.*520C>G
XM_017021216.2:c.420-10C>G	XP_016876705.1:n.420-10C>G
XM_017021217.1:c.420-10C>G	XP_016876706.1:n.420-10C>G
NM_001099274.3:c.1062-10C>G MANE Select	NP_001092744.1:n.1062-10C>G
NM_001363668.2:c.957-10C>G	NP_001350597.1:n.957-10C>G