Canonical Allele Identifier: CA116666
Gene: TMPRSS15 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.18312975G>C
GRCh37 chr21:g.19685292G>C
gnomAD v2:
21:19685292 G / C
gnomAD v3:
21:18312975 G / C
gnomAD v4:
chr21-18312975-G-C
Joint Max Group AF 0.00166206 (NFE)
Genomes Max Group AF 0.00092834 (NFE)
Exomes Max Group AF 0.00169572 (NFE)
ClinVar RCV:
RCV000004381
RCV000522000
ClinVar Variation:
4164
dbSNP:
77200626
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.18312975G>C , CM000683.2:g.18312975G>C GRCh38
NC_000021.8:g.19685292G>C , CM000683.1:g.19685292G>C GRCh37
NC_000021.7:g.18607163G>C NCBI36
NG_012207.1:g.95679C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284885.8:c.2135C>G MANE Select ENSP00000284885.3:p.Ser712Ter
ENST00000284885.7:c.2135C>G ENSP00000284885.3:p.Ser712Ter
NM_002772.2:c.2135C>G NP_002763.2:p.Ser712Ter
XM_011529654.1:c.2270C>G XP_011527956.1:p.Ser757Ter
XM_011529655.1:c.2270C>G XP_011527957.1:p.Ser757Ter
XM_011529656.1:c.2270C>G XP_011527958.1:p.Ser757Ter
XM_011529657.1:c.2225C>G XP_011527959.1:p.Ser742Ter
XM_011529658.1:c.2189C>G XP_011527960.1:p.Ser730Ter
XM_011529659.1:c.2180C>G XP_011527961.1:p.Ser727Ter
XM_011529654.2:c.2270C>G XP_011527956.1:p.Ser757Ter
XM_011529656.2:c.2270C>G XP_011527958.1:p.Ser757Ter
XM_011529657.2:c.2225C>G XP_011527959.1:p.Ser742Ter
XM_011529658.2:c.2189C>G XP_011527960.1:p.Ser730Ter
NM_002772.3:c.2135C>G MANE Select NP_002763.3:p.Ser712Ter
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