Canonical Allele Identifier: CA346717497

Gene: TTC7A STPG4

Linked Data

• ClinVar Variation Id: 2197317
• ClinVar RCV Id: RCV002637604
• dbSNP Id: rs1210703047
• gnomAD v4: 2-47073731-G-C
• MyVariant Identifiers: chr2:g.47300870G>C (hg19) ; chr2:g.47073731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073731G>C , CM000664.2:g.47073731G>C	GRCh38
NC_000002.11:g.47300870G>C , CM000664.1:g.47300870G>C	GRCh37
NC_000002.10:g.47154374G>C	NCBI36
NG_034143.1:g.162603G>C
NG_034143.2:g.162603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4218G>C (TTC7A)
ENST00000698503.1:n.2391G>C (TTC7A)
ENST00000698504.1:n.466G>C (TTC7A)
ENST00000319190.11:c.2385G>C (TTC7A) MANE Select	ENSP00000316699.5:p.Lys795Asn
ENST00000651101.1:n.983G>C (TTC7A)
ENST00000651415.1:n.1176G>C (TTC7A)
ENST00000652236.1:n.1086G>C (TTC7A)
ENST00000652568.1:n.1058G>C (TTC7A)
ENST00000319190.9:c.2385G>C (TTC7A)	ENSP00000316699.5:p.Lys795Asn
ENST00000394850.6:c.2457G>C (TTC7A)	ENSP00000378320.2:p.Lys819Asn
ENST00000409245.5:c.2283G>C (TTC7A)	ENSP00000386307.1:p.Lys761Asn
ENST00000409825.5:c.2333G>C (TTC7A)
ENST00000422269.1:c.787-7594C>G
ENST00000441914.5:c.2226G>C (TTC7A)
ENST00000464527.2:n.399-7594C>G (STPG4)
ENST00000482548.1:n.402-5175C>G (STPG4)
ENST00000484061.5:n.1492G>C (TTC7A)
ENST00000491786.5:n.1789G>C (TTC7A)
ENST00000496939.1:n.416-26812C>G (STPG4)
NM_001288951.1:c.2457G>C (TTC7A)	NP_001275880.1:p.Lys819Asn
NM_001288953.1:c.2283G>C (TTC7A)	NP_001275882.1:p.Lys761Asn
NM_001288955.1:c.1323G>C (TTC7A)	NP_001275884.1:p.Lys441Asn
NM_020458.3:c.2385G>C (TTC7A)	NP_065191.2:p.Lys795Asn
XM_005264439.2:c.2028G>C (TTC7A)	XP_005264496.1:p.Lys676Asn
XM_011532998.1:c.2028G>C (TTC7A)	XP_011531300.1:p.Lys676Asn
XM_011533000.1:c.1605G>C (TTC7A)	XP_011531302.1:p.Lys535Asn
XM_011533001.1:c.1338G>C (TTC7A)	XP_011531303.1:p.Lys446Asn
XM_005264439.4:c.2028G>C (TTC7A)	XP_005264496.1:p.Lys676Asn
XM_011532998.3:c.2028G>C (TTC7A)	XP_011531300.1:p.Lys676Asn
XM_011533000.3:c.1605G>C (TTC7A)	XP_011531302.1:p.Lys535Asn
XM_011533001.3:c.1338G>C (TTC7A)	XP_011531303.1:p.Lys446Asn
XM_017004524.1:c.2268G>C (TTC7A)	XP_016860013.1:p.Lys756Asn
XM_017004525.1:c.2217G>C (TTC7A)	XP_016860014.1:p.Lys739Asn
XM_017004526.1:c.2136G>C (TTC7A)	XP_016860015.1:p.Lys712Asn
XM_024453013.1:c.1350G>C (TTC7A)	XP_024308781.1:p.Lys450Asn
NM_020458.4:c.2385G>C (TTC7A) MANE Select	NP_065191.2:p.Lys795Asn
NM_001288951.2:c.2457G>C (TTC7A)	NP_001275880.1:p.Lys819Asn
NM_001288953.2:c.2283G>C (TTC7A)	NP_001275882.1:p.Lys761Asn
NM_001288955.2:c.1323G>C (TTC7A)	NP_001275884.1:p.Lys441Asn