Canonical Allele Identifier: CA1605981
Gene: TTC27 HGNC NCBI
COSMIC:
COSN8868138 (not active)
COSN26727295 (not active)
MyVariant.info:
GRCh38 chr2:g.32640454G>C
GRCh37 chr2:g.32865521G>C
gnomAD v2:
2:32865521 G / C
gnomAD v3:
2:32640454 G / C
gnomAD v4:
chr2-32640454-G-C
Joint Max Group AF 0.33257637 (SAS)
Genomes Max Group AF 0.32947418 (SAS)
Exomes Max Group AF 0.33206062 (SAS)
dbSNP:
1031261
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32640454G>C , CM000664.2:g.32640454G>C GRCh38
NC_000002.11:g.32865521G>C , CM000664.1:g.32865521G>C GRCh37
NC_000002.10:g.32719025G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317907.9:c.537+44G>C MANE Select ENSP00000313953.4:n.537+44G>C
ENST00000647819.1:c.537+44G>C ENSP00000497009.1:n.537+44G>C
ENST00000317907.8:c.537+44G>C ENSP00000313953.4:n.537+44G>C
ENST00000454690.1:c.88+12074G>C ENSP00000392883.1:n.88+12074G>C
NM_001193509.1:c.387+44G>C NP_001180438.1:n.387+44G>C
NM_017735.4:c.537+44G>C NP_060205.3:n.537+44G>C
XM_005264416.1:c.537+44G>C XP_005264473.1:n.537+44G>C
XM_011532958.1:c.537+44G>C XP_011531260.1:n.537+44G>C
XM_005264416.2:c.537+44G>C XP_005264473.1:n.537+44G>C
XM_011532958.2:c.537+44G>C XP_011531260.1:n.537+44G>C
XR_002959314.1:n.795+44G>C
NM_017735.5:c.537+44G>C MANE Select NP_060205.3:n.537+44G>C
NM_001193509.2:c.387+44G>C NP_001180438.1:n.387+44G>C
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