Canonical Allele Identifier: CA3799169
Gene: TREML2 HGNC NCBI
COSMIC:
COSM5480739 (not active)
MyVariant.info:
GRCh38 chr6:g.41194780T>C
GRCh37 chr6:g.41162518T>C
Revel Score:
ENST00000483722 (MANE Select) 0.032
gnomAD v2:
6:41162518 T / C
gnomAD v3:
6:41194780 T / C
gnomAD v4:
chr6-41194780-T-C
Joint Max Group AF 0.41414006 (AMR)
Genomes Max Group AF 0.35852714 (AMR)
Exomes Max Group AF 0.43148148 (AMR)
dbSNP:
3747742
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41194780T>C , CM000668.2:g.41194780T>C GRCh38
NC_000006.11:g.41162518T>C , CM000668.1:g.41162518T>C GRCh37
NC_000006.10:g.41270496T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000483722.2:c.430A>G MANE Select ENSP00000418767.1:p.Ser144Gly
ENST00000483722.1:c.430A>G ENSP00000418767.1:p.Ser144Gly
NM_024807.3:c.430A>G NP_079083.2:p.Ser144Gly
XM_011514917.1:c.286A>G XP_011513219.1:p.Ser96Gly
XM_011514917.2:c.286A>G XP_011513219.1:p.Ser96Gly
NM_024807.4:c.430A>G MANE Select NP_079083.2:p.Ser144Gly
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