Canonical Allele Identifier: CA349062144
Community Standard Title: NM_024753.5(TTC21B):c.1516+2T>G
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165924547A>C , CM000664.2:g.165924547A>C GRCh38
NC_000002.11:g.166781057A>C , CM000664.1:g.166781057A>C GRCh37
NC_000002.10:g.166489303A>C NCBI36
NG_030345.1:g.34292T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.1516+2T>G MANE Select NP_079029.3:n.1516+2T>G
ENST00000243344.8:c.1516+2T>G MANE Select ENSP00000243344.7:n.1516+2T>G
NM_024753.4:c.1516+2T>G NP_079029.3:n.1516+2T>G
ENST00000243344.7:c.1516+2T>G ENSP00000243344.7:n.1516+2T>G
ENST00000652557.1:c.1516+2T>G ENSP00000498617.1:n.1516+2T>G
ENST00000679356.1:c.1516+2T>G ENSP00000506245.1:n.1516+2T>G
ENST00000679671.1:n.1629+2T>G
ENST00000679676.1:c.1405+2T>G ENSP00000505492.1:n.1405+2T>G
ENST00000679799.1:c.1516+2T>G ENSP00000505208.1:n.1516+2T>G
ENST00000679840.1:c.1516+2T>G ENSP00000505248.1:n.1516+2T>G
ENST00000679931.1:c.*558+2T>G ENSP00000505632.1:n.*558+2T>G
ENST00000679967.1:c.1516+2T>G ENSP00000506607.1:n.1516+2T>G
ENST00000680225.1:n.777T>G
ENST00000680327.1:c.*558+2T>G ENSP00000506639.1:n.*558+2T>G
ENST00000680448.1:c.1516+2T>G ENSP00000505921.1:n.1516+2T>G
ENST00000680657.1:n.1627+2T>G
ENST00000680690.1:c.*768+2T>G ENSP00000506121.1:n.*768+2T>G
ENST00000680888.1:c.1516+2T>G ENSP00000506276.1:n.1516+2T>G
ENST00000680947.1:c.*788+2T>G ENSP00000506496.1:n.*788+2T>G
ENST00000681024.1:c.1516+2T>G ENSP00000506449.1:n.1516+2T>G
ENST00000681083.1:c.*1250+2T>G ENSP00000506095.1:n.*1250+2T>G
ENST00000681167.1:n.1390+2T>G
ENST00000681483.1:c.1516+2T>G ENSP00000505499.1:n.1516+2T>G
ENST00000681502.1:c.*940+2T>G ENSP00000505644.1:n.*940+2T>G
ENST00000681606.1:c.1516+2T>G ENSP00000505354.1:n.1516+2T>G
ENST00000681819.1:c.1516+2T>G ENSP00000505673.1:n.1516+2T>G
ENST00000681952.1:c.1516+2T>G ENSP00000506400.1:n.1516+2T>G
XM_006712761.1:c.1516+2T>G XP_006712824.1:n.1516+2T>G
XM_011511870.1:c.949+2T>G XP_011510172.1:n.949+2T>G
XM_011511871.1:c.766+2T>G XP_011510173.1:n.766+2T>G
XM_011511871.3:c.766+2T>G XP_011510173.1:n.766+2T>G
XM_011511872.1:c.1516+2T>G XP_011510174.1:n.1516+2T>G
XM_011511872.2:c.1516+2T>G XP_011510174.1:n.1516+2T>G
XM_017004967.1:c.1516+2T>G XP_016860456.1:n.1516+2T>G
XM_017004968.2:c.862+2T>G XP_016860457.1:n.862+2T>G
XM_017004969.1:c.517+2T>G XP_016860458.1:n.517+2T>G