Canonical Allele Identifier: CA1941349

Gene: TTC21B

Linked Data

• ClinVar Variation Id: 508884
• ClinVar RCV Id: RCV000612511 ; RCV001130402 ; RCV001130403 ; RCV001520867 ; RCV001811098
• dbSNP Id: rs200347449
• ExAC: 2:166731356 A / G
• gnomAD v2: 2-166731356-A-G
• gnomAD v3: 2-165874846-A-G
• gnomAD v4: 2-165874846-A-G
• MyVariant Identifiers: chr2:g.166731356A>G (hg19) ; chr2:g.165874846A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165874846A>G , CM000664.2:g.165874846A>G	GRCh38
NC_000002.11:g.166731356A>G , CM000664.1:g.166731356A>G	GRCh37
NC_000002.10:g.166439602A>G	NCBI36
NG_030345.1:g.83993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243344.8:c.3874-14T>C MANE Select	ENSP00000243344.7:n.3874-14T>C
ENST00000652557.1:c.3806-3826T>C	ENSP00000498617.1:n.3806-3826T>C
ENST00000679356.1:c.3871-14T>C	ENSP00000506245.1:n.3871-14T>C
ENST00000679676.1:c.3763-14T>C	ENSP00000505492.1:n.3763-14T>C
ENST00000679799.1:c.3806-3826T>C	ENSP00000505208.1:n.3806-3826T>C
ENST00000679931.1:c.*2916-14T>C	ENSP00000505632.1:n.*2916-14T>C
ENST00000679967.1:c.3865-14T>C	ENSP00000506607.1:n.3865-14T>C
ENST00000680327.1:c.*2916-14T>C	ENSP00000506639.1:n.*2916-14T>C
ENST00000680657.1:n.5303T>C
ENST00000680690.1:c.*3126-14T>C	ENSP00000506121.1:n.*3126-14T>C
ENST00000680888.1:c.3874-14T>C	ENSP00000506276.1:n.3874-14T>C
ENST00000680904.1:n.364T>C
ENST00000680947.1:c.*3146-14T>C	ENSP00000506496.1:n.*3146-14T>C
ENST00000681024.1:c.*3664-14T>C	ENSP00000506449.1:n.*3664-14T>C
ENST00000681083.1:c.*3605-14T>C	ENSP00000506095.1:n.*3605-14T>C
ENST00000681167.1:n.3752-14T>C
ENST00000681483.1:c.*684-14T>C	ENSP00000505499.1:n.*684-14T>C
ENST00000681502.1:c.*7134-14T>C	ENSP00000505644.1:n.*7134-14T>C
ENST00000681819.1:c.*684-14T>C	ENSP00000505673.1:n.*684-14T>C
ENST00000681952.1:c.3874-14T>C	ENSP00000506400.1:n.3874-14T>C
ENST00000243344.7:c.3874-14T>C	ENSP00000243344.7:n.3874-14T>C
ENST00000392695.6:c.774-14T>C
NM_024753.4:c.3874-14T>C	NP_079029.3:n.3874-14T>C
XM_011511870.1:c.3307-14T>C	XP_011510172.1:n.3307-14T>C
XM_011511871.1:c.3124-14T>C	XP_011510173.1:n.3124-14T>C
XM_011511871.3:c.3124-14T>C	XP_011510173.1:n.3124-14T>C
XM_011511872.2:c.*1076-14T>C	XP_011510174.1:n.*1076-14T>C
XM_017004968.2:c.3220-14T>C	XP_016860457.1:n.3220-14T>C
XM_017004969.1:c.2875-14T>C	XP_016860458.1:n.2875-14T>C
NM_024753.5:c.3874-14T>C MANE Select	NP_079029.3:n.3874-14T>C