Canonical Allele Identifier: CA1941888

Gene: TTC21B

Linked Data

• ClinVar Variation Id: 331829
• ClinVar RCV Id: RCV000263172 ; RCV000634198 ; RCV000756833 ; RCV000318231 ; RCV004537839 ; RCV002521311
• dbSNP Id: rs183367929
• ExAC: 2:166769119 C / T
• gnomAD v2: 2-166769119-C-T
• gnomAD v3: 2-165912609-C-T
• gnomAD v4: 2-165912609-C-T
• MyVariant Identifiers: chr2:g.166769119C>T (hg19) ; chr2:g.165912609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165912609C>T , CM000664.2:g.165912609C>T	GRCh38
NC_000002.11:g.166769119C>T , CM000664.1:g.166769119C>T	GRCh37
NC_000002.10:g.166477365C>T	NCBI36
NG_030345.1:g.46230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243344.8:c.2227G>A MANE Select	ENSP00000243344.7:p.Val743Ile
ENST00000652557.1:c.2227G>A	ENSP00000498617.1:p.Val743Ile
ENST00000679356.1:c.2227G>A	ENSP00000506245.1:p.Val743Ile
ENST00000679671.1:n.2340G>A
ENST00000679676.1:c.2116G>A	ENSP00000505492.1:p.Val706Ile
ENST00000679799.1:c.2227G>A	ENSP00000505208.1:p.Val743Ile
ENST00000679840.1:c.2227G>A	ENSP00000505248.1:p.Val743Ile
ENST00000679931.1:c.*1269G>A	ENSP00000505632.1:n.*1269G>A
ENST00000679967.1:c.2227G>A	ENSP00000506607.1:p.Val743Ile
ENST00000680327.1:c.*1269G>A	ENSP00000506639.1:n.*1269G>A
ENST00000680448.1:c.2227G>A	ENSP00000505921.1:p.Val743Ile
ENST00000680657.1:n.2338G>A
ENST00000680690.1:c.*1479G>A	ENSP00000506121.1:n.*1479G>A
ENST00000680888.1:c.2227G>A	ENSP00000506276.1:p.Val743Ile
ENST00000680947.1:c.*1499G>A	ENSP00000506496.1:n.*1499G>A
ENST00000681024.1:c.2227G>A	ENSP00000506449.1:p.Val743Ile
ENST00000681083.1:c.*1961G>A	ENSP00000506095.1:n.*1961G>A
ENST00000681167.1:n.2101G>A
ENST00000681483.1:c.2227G>A	ENSP00000505499.1:p.Val743Ile
ENST00000681502.1:c.*1651G>A	ENSP00000505644.1:n.*1651G>A
ENST00000681606.1:c.2227G>A	ENSP00000505354.1:p.Val743Ile
ENST00000681819.1:c.2227G>A	ENSP00000505673.1:p.Val743Ile
ENST00000681952.1:c.2227G>A	ENSP00000506400.1:p.Val743Ile
ENST00000243344.7:c.2227G>A	ENSP00000243344.7:p.Val743Ile
NM_024753.4:c.2227G>A	NP_079029.3:p.Val743Ile
XM_006712761.1:c.2227G>A	XP_006712824.1:p.Val743Ile
XM_011511870.1:c.1660G>A	XP_011510172.1:p.Val554Ile
XM_011511871.1:c.1477G>A	XP_011510173.1:p.Val493Ile
XM_011511872.1:c.2227G>A	XP_011510174.1:p.Val743Ile
XM_011511871.3:c.1477G>A	XP_011510173.1:p.Val493Ile
XM_011511872.2:c.2227G>A	XP_011510174.1:p.Val743Ile
XM_017004967.1:c.2227G>A	XP_016860456.1:p.Val743Ile
XM_017004968.2:c.1573G>A	XP_016860457.1:p.Val525Ile
XM_017004969.1:c.1228G>A	XP_016860458.1:p.Val410Ile
NM_024753.5:c.2227G>A MANE Select	NP_079029.3:p.Val743Ile