Canonical Allele Identifier: CA1001837

Gene: DRAM2

Linked Data

• dbSNP Id: rs747308214
• ExAC: 1:111663243 C / G
• gnomAD v2: 1-111663243-C-G
• gnomAD v4: 1-111120621-C-G
• MyVariant Identifiers: chr1:g.111663243C>G (hg19) ; chr1:g.111120621C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111120621C>G , CM000663.2:g.111120621C>G	GRCh38
NC_000001.10:g.111663243C>G , CM000663.1:g.111663243C>G	GRCh37
NC_000001.9:g.111464766C>G	NCBI36
NG_053089.1:g.24596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484310.6:c.412G>C MANE Select	ENSP00000503400.1:p.Val138Leu
ENST00000539140.6:c.412G>C	ENSP00000437718.1:p.Val138Leu
ENST00000286692.8:c.412G>C	ENSP00000286692.4:p.Val138Leu
ENST00000461449.5:n.186G>C
ENST00000462092.5:n.733G>C
ENST00000480600.6:n.428G>C
ENST00000484310.5:n.656G>C
ENST00000496430.6:c.*99G>C	ENSP00000473779.1:n.*99G>C
ENST00000539140.5:c.412G>C	ENSP00000437718.1:p.Val138Leu
NM_178454.4:c.412G>C	NP_848549.3:p.Val138Leu
XM_005270469.1:c.412G>C	XP_005270526.1:p.Val138Leu
XM_005270470.1:c.412G>C	XP_005270527.1:p.Val138Leu
XM_006710361.1:c.142G>C	XP_006710424.1:p.Val48Leu
XM_006710362.1:c.142G>C	XP_006710425.1:p.Val48Leu
XM_011540707.1:c.412G>C	XP_011539009.1:p.Val138Leu
XM_011540708.1:c.412G>C	XP_011539010.1:p.Val138Leu
NM_001349881.1:c.412G>C	NP_001336810.1:p.Val138Leu
NM_001349882.1:c.412G>C	NP_001336811.1:p.Val138Leu
NM_001349884.1:c.412G>C	NP_001336813.1:p.Val138Leu
NM_001349885.1:c.412G>C	NP_001336814.1:p.Val138Leu
NM_001349886.1:c.142G>C	NP_001336815.1:p.Val48Leu
NM_001349887.1:c.142G>C	NP_001336816.1:p.Val48Leu
NM_001349888.1:c.142G>C	NP_001336817.1:p.Val48Leu
NM_001349889.1:c.22G>C	NP_001336818.1:p.Val8Leu
NM_001349890.1:c.22G>C	NP_001336819.1:p.Val8Leu
NM_001349891.1:c.22G>C	NP_001336820.1:p.Val8Leu
NM_001349892.1:c.22G>C	NP_001336821.1:p.Val8Leu
NM_001349893.1:c.22G>C	NP_001336822.1:p.Val8Leu
NM_178454.5:c.412G>C	NP_848549.3:p.Val138Leu
NR_146301.1:n.669G>C
NR_146302.1:n.529G>C
NR_146303.1:n.880G>C
NR_146304.1:n.740G>C
NR_146305.1:n.723G>C
NR_146306.1:n.695G>C
NR_146307.1:n.768G>C
NR_146308.1:n.835G>C
NM_001349881.2:c.412G>C	NP_001336810.1:p.Val138Leu
NM_001349882.2:c.412G>C	NP_001336811.1:p.Val138Leu
NM_001349884.2:c.412G>C MANE Select	NP_001336813.1:p.Val138Leu
NM_001349885.2:c.412G>C	NP_001336814.1:p.Val138Leu
NM_001349886.2:c.142G>C	NP_001336815.1:p.Val48Leu
NM_001349887.2:c.142G>C	NP_001336816.1:p.Val48Leu
NM_001349888.2:c.142G>C	NP_001336817.1:p.Val48Leu
NM_001349889.2:c.22G>C	NP_001336818.1:p.Val8Leu
NM_001349890.2:c.22G>C	NP_001336819.1:p.Val8Leu
NM_001349891.2:c.22G>C	NP_001336820.1:p.Val8Leu
NM_001349892.2:c.22G>C	NP_001336821.1:p.Val8Leu
NM_001349893.2:c.22G>C	NP_001336822.1:p.Val8Leu
NM_178454.6:c.412G>C	NP_848549.3:p.Val138Leu
NR_146301.2:n.546G>C
NR_146302.2:n.406G>C
NR_146303.2:n.757G>C
NR_146304.2:n.617G>C
NR_146305.2:n.600G>C
NR_146306.2:n.572G>C
NR_146307.2:n.645G>C
NR_146308.2:n.712G>C