Canonical Allele Identifier: CA341819023

Gene: DRAM2

Linked Data

• ClinVar Variation Id: 1377626
• ClinVar RCV Id: RCV001889949 ; RCV002552238
• dbSNP Id: rs1387364883
• gnomAD v3: 1-111120647-A-G
• gnomAD v4: 1-111120647-A-G
• MyVariant Identifiers: chr1:g.111663269A>G (hg19) ; chr1:g.111120647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111120647A>G , CM000663.2:g.111120647A>G	GRCh38
NC_000001.10:g.111663269A>G , CM000663.1:g.111663269A>G	GRCh37
NC_000001.9:g.111464792A>G	NCBI36
NG_053089.1:g.24570T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484310.6:c.386T>C MANE Select	ENSP00000503400.1:p.Phe129Ser
ENST00000539140.6:c.386T>C	ENSP00000437718.1:p.Phe129Ser
ENST00000286692.8:c.386T>C	ENSP00000286692.4:p.Phe129Ser
ENST00000461449.5:n.160T>C
ENST00000462092.5:n.707T>C
ENST00000480600.6:n.402T>C
ENST00000484310.5:n.630T>C
ENST00000496430.6:c.*73T>C	ENSP00000473779.1:n.*73T>C
ENST00000539140.5:c.386T>C	ENSP00000437718.1:p.Phe129Ser
NM_178454.4:c.386T>C	NP_848549.3:p.Phe129Ser
XM_005270469.1:c.386T>C	XP_005270526.1:p.Phe129Ser
XM_005270470.1:c.386T>C	XP_005270527.1:p.Phe129Ser
XM_006710361.1:c.116T>C	XP_006710424.1:p.Phe39Ser
XM_006710362.1:c.116T>C	XP_006710425.1:p.Phe39Ser
XM_011540707.1:c.386T>C	XP_011539009.1:p.Phe129Ser
XM_011540708.1:c.386T>C	XP_011539010.1:p.Phe129Ser
NM_001349881.1:c.386T>C	NP_001336810.1:p.Phe129Ser
NM_001349882.1:c.386T>C	NP_001336811.1:p.Phe129Ser
NM_001349884.1:c.386T>C	NP_001336813.1:p.Phe129Ser
NM_001349885.1:c.386T>C	NP_001336814.1:p.Phe129Ser
NM_001349886.1:c.116T>C	NP_001336815.1:p.Phe39Ser
NM_001349887.1:c.116T>C	NP_001336816.1:p.Phe39Ser
NM_001349888.1:c.116T>C	NP_001336817.1:p.Phe39Ser
NM_001349889.1:c.-5T>C	NP_001336818.1:n.-5T>C
NM_001349890.1:c.-5T>C	NP_001336819.1:n.-5T>C
NM_001349891.1:c.-5T>C	NP_001336820.1:n.-5T>C
NM_001349892.1:c.-5T>C	NP_001336821.1:n.-5T>C
NM_001349893.1:c.-5T>C	NP_001336822.1:n.-5T>C
NM_178454.5:c.386T>C	NP_848549.3:p.Phe129Ser
NR_146301.1:n.643T>C
NR_146302.1:n.503T>C
NR_146303.1:n.854T>C
NR_146304.1:n.714T>C
NR_146305.1:n.697T>C
NR_146306.1:n.669T>C
NR_146307.1:n.742T>C
NR_146308.1:n.809T>C
NM_001349881.2:c.386T>C	NP_001336810.1:p.Phe129Ser
NM_001349882.2:c.386T>C	NP_001336811.1:p.Phe129Ser
NM_001349884.2:c.386T>C MANE Select	NP_001336813.1:p.Phe129Ser
NM_001349885.2:c.386T>C	NP_001336814.1:p.Phe129Ser
NM_001349886.2:c.116T>C	NP_001336815.1:p.Phe39Ser
NM_001349887.2:c.116T>C	NP_001336816.1:p.Phe39Ser
NM_001349888.2:c.116T>C	NP_001336817.1:p.Phe39Ser
NM_001349889.2:c.-5T>C	NP_001336818.1:n.-5T>C
NM_001349890.2:c.-5T>C	NP_001336819.1:n.-5T>C
NM_001349891.2:c.-5T>C	NP_001336820.1:n.-5T>C
NM_001349892.2:c.-5T>C	NP_001336821.1:n.-5T>C
NM_001349893.2:c.-5T>C	NP_001336822.1:n.-5T>C
NM_178454.6:c.386T>C	NP_848549.3:p.Phe129Ser
NR_146301.2:n.520T>C
NR_146302.2:n.380T>C
NR_146303.2:n.731T>C
NR_146304.2:n.591T>C
NR_146305.2:n.574T>C
NR_146306.2:n.546T>C
NR_146307.2:n.619T>C
NR_146308.2:n.686T>C