Canonical Allele Identifier: CA246806

Gene: TTC21B TTC21B-AS1

Linked Data

• ClinVar Variation Id: 198257
• ClinVar RCV Id: RCV000179530 ; RCV000724482 ; RCV000986867 ; RCV001087340 ; RCV001132638 ; RCV001132639 ; RCV003937624
• dbSNP Id: rs149925563
• ExAC: 2:166797556 T / A
• gnomAD v2: 2-166797556-T-A
• gnomAD v3: 2-165941046-T-A
• gnomAD v4: 2-165941046-T-A
• MyVariant Identifiers: chr2:g.166797556T>A (hg19) ; chr2:g.165941046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165941046T>A , CM000664.2:g.165941046T>A	GRCh38
NC_000002.11:g.166797556T>A , CM000664.1:g.166797556T>A	GRCh37
NC_000002.10:g.166505802T>A	NCBI36
NG_030345.1:g.17793A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243344.8:c.691A>T (TTC21B) MANE Select	ENSP00000243344.7:p.Thr231Ser
ENST00000652557.1:c.691A>T (TTC21B)	ENSP00000498617.1:p.Thr231Ser
ENST00000679356.1:c.691A>T (TTC21B)	ENSP00000506245.1:p.Thr231Ser
ENST00000679671.1:n.804A>T (TTC21B)
ENST00000679676.1:c.580A>T (TTC21B)	ENSP00000505492.1:p.Thr194Ser
ENST00000679799.1:c.691A>T (TTC21B)	ENSP00000505208.1:p.Thr231Ser
ENST00000679840.1:c.691A>T (TTC21B)	ENSP00000505248.1:p.Thr231Ser
ENST00000679931.1:c.691A>T (TTC21B)	ENSP00000505632.1:p.Thr231Ser
ENST00000679967.1:c.691A>T (TTC21B)	ENSP00000506607.1:p.Thr231Ser
ENST00000680327.1:c.691A>T (TTC21B)	ENSP00000506639.1:p.Thr231Ser
ENST00000680448.1:c.691A>T (TTC21B)	ENSP00000505921.1:p.Thr231Ser
ENST00000680657.1:n.802A>T (TTC21B)
ENST00000680690.1:c.691A>T (TTC21B)	ENSP00000506121.1:p.Thr231Ser
ENST00000680888.1:c.691A>T (TTC21B)	ENSP00000506276.1:p.Thr231Ser
ENST00000680947.1:c.552+2173A>T (TTC21B)	ENSP00000506496.1:n.552+2173A>T
ENST00000681024.1:c.691A>T (TTC21B)	ENSP00000506449.1:p.Thr231Ser
ENST00000681083.1:c.*425A>T (TTC21B)	ENSP00000506095.1:n.*425A>T
ENST00000681483.1:c.691A>T (TTC21B)	ENSP00000505499.1:p.Thr231Ser
ENST00000681502.1:c.691A>T (TTC21B)	ENSP00000505644.1:p.Thr231Ser
ENST00000681606.1:c.691A>T (TTC21B)	ENSP00000505354.1:p.Thr231Ser
ENST00000681819.1:c.691A>T (TTC21B)	ENSP00000505673.1:p.Thr231Ser
ENST00000681952.1:c.691A>T (TTC21B)	ENSP00000506400.1:p.Thr231Ser
ENST00000243344.7:c.691A>T (TTC21B)	ENSP00000243344.7:p.Thr231Ser
ENST00000464374.5:n.731A>T (TTC21B)
NM_024753.4:c.691A>T (TTC21B)	NP_079029.3:p.Thr231Ser
NR_038983.1:n.277-6151T>A (TTC21B-AS1)
NR_038984.1:n.221-6151T>A (TTC21B-AS1)
XM_006712761.1:c.691A>T (TTC21B)	XP_006712824.1:p.Thr231Ser
XM_011511870.1:c.124A>T (TTC21B)	XP_011510172.1:p.Thr42Ser
XM_011511872.1:c.691A>T (TTC21B)	XP_011510174.1:p.Thr231Ser
XM_011511872.2:c.691A>T (TTC21B)	XP_011510174.1:p.Thr231Ser
XM_017004967.1:c.691A>T (TTC21B)	XP_016860456.1:p.Thr231Ser
XM_017004969.1:c.-326A>T (TTC21B)	XP_016860458.1:n.-326A>T
NM_024753.5:c.691A>T (TTC21B) MANE Select	NP_079029.3:p.Thr231Ser