Canonical Allele Identifier: CA10698909
Gene: TMCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1668873
gnomAD v2: 1-205235990-G-A
gnomAD v3: 1-205266862-G-A
gnomAD v4: 1-205266862-G-A
MyVariant Identifiers: chr1:g.205235990G>A (hg19) chr1:g.205266862G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205266862G>A , CM000663.2:g.205266862G>A GRCh38
NC_000001.10:g.205235990G>A , CM000663.1:g.205235990G>A GRCh37
NC_000001.9:g.203502613G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000330675.12:c.163-2088G>A ENSP00000331842.7:n.163-2088G>A
ENST00000358024.8:c.748-2088G>A MANE Select ENSP00000350718.3:n.748-2088G>A
ENST00000481950.2:n.73-2088G>A
ENST00000637895.1:c.73-2088G>A ENSP00000490308.1:n.73-2088G>A
ENST00000329800.7:c.28-2088G>A ENSP00000329436.6:n.28-2088G>A
ENST00000330675.11:c.73-2088G>A ENSP00000331842.6:n.73-2088G>A
ENST00000358024.7:c.748-2088G>A ENSP00000350718.3:n.748-2088G>A
ENST00000367159.2:c.160-2088G>A ENSP00000356127.2:n.160-2088G>A
ENST00000468846.5:n.217-4258G>A
ENST00000481950.1:n.137-2088G>A
ENST00000495538.5:n.979-2088G>A
ENST00000545499.5:c.514-2088G>A ENSP00000437943.1:n.514-2088G>A
NM_001242925.1:c.514-2088G>A NP_001229854.1:n.514-2088G>A
NM_001297611.1:c.73-2088G>A NP_001284540.1:n.73-2088G>A
NM_001297613.1:c.28-2088G>A NP_001284542.1:n.28-2088G>A
NM_014858.3:c.748-2088G>A NP_055673.2:n.748-2088G>A
XM_005245684.1:c.514-2088G>A XP_005245741.1:n.514-2088G>A
XM_005245685.3:c.514-2088G>A XP_005245742.1:n.514-2088G>A
XM_005245686.2:c.748-2088G>A XP_005245743.1:n.748-2088G>A
XM_006711694.1:c.514-2088G>A XP_006711757.1:n.514-2088G>A
NM_001331034.1:c.163-2088G>A NP_001317963.1:n.163-2088G>A
XM_005245684.2:c.514-2088G>A XP_005245741.1:n.514-2088G>A
XM_005245685.4:c.514-2088G>A XP_005245742.1:n.514-2088G>A
XM_005245686.3:c.748-2088G>A XP_005245743.1:n.748-2088G>A
NM_014858.4:c.748-2088G>A MANE Select NP_055673.2:n.748-2088G>A
NM_001375651.1:c.514-2088G>A NP_001362580.1:n.514-2088G>A
NM_001375652.1:c.514-2088G>A NP_001362581.1:n.514-2088G>A
NM_001242925.2:c.514-2088G>A NP_001229854.1:n.514-2088G>A
NM_001297611.2:c.73-2088G>A NP_001284540.1:n.73-2088G>A
NM_001297613.2:c.28-2088G>A NP_001284542.1:n.28-2088G>A
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