Canonical Allele Identifier: CA341819038

Gene: DRAM2

Linked Data

• dbSNP Id: rs1649873533
• gnomAD v4: 1-111120654-G-C
• MyVariant Identifiers: chr1:g.111663276G>C (hg19) ; chr1:g.111120654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111120654G>C , CM000663.2:g.111120654G>C	GRCh38
NC_000001.10:g.111663276G>C , CM000663.1:g.111663276G>C	GRCh37
NC_000001.9:g.111464799G>C	NCBI36
NG_053089.1:g.24563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484310.6:c.379C>G MANE Select	ENSP00000503400.1:p.Leu127Val
ENST00000539140.6:c.379C>G	ENSP00000437718.1:p.Leu127Val
ENST00000286692.8:c.379C>G	ENSP00000286692.4:p.Leu127Val
ENST00000461449.5:n.153C>G
ENST00000462092.5:n.700C>G
ENST00000480600.6:n.395C>G
ENST00000484310.5:n.623C>G
ENST00000496430.6:c.*66C>G	ENSP00000473779.1:n.*66C>G
ENST00000539140.5:c.379C>G	ENSP00000437718.1:p.Leu127Val
NM_178454.4:c.379C>G	NP_848549.3:p.Leu127Val
XM_005270469.1:c.379C>G	XP_005270526.1:p.Leu127Val
XM_005270470.1:c.379C>G	XP_005270527.1:p.Leu127Val
XM_006710361.1:c.109C>G	XP_006710424.1:p.Leu37Val
XM_006710362.1:c.109C>G	XP_006710425.1:p.Leu37Val
XM_011540707.1:c.379C>G	XP_011539009.1:p.Leu127Val
XM_011540708.1:c.379C>G	XP_011539010.1:p.Leu127Val
NM_001349881.1:c.379C>G	NP_001336810.1:p.Leu127Val
NM_001349882.1:c.379C>G	NP_001336811.1:p.Leu127Val
NM_001349884.1:c.379C>G	NP_001336813.1:p.Leu127Val
NM_001349885.1:c.379C>G	NP_001336814.1:p.Leu127Val
NM_001349886.1:c.109C>G	NP_001336815.1:p.Leu37Val
NM_001349887.1:c.109C>G	NP_001336816.1:p.Leu37Val
NM_001349888.1:c.109C>G	NP_001336817.1:p.Leu37Val
NM_001349889.1:c.-12C>G	NP_001336818.1:n.-12C>G
NM_001349890.1:c.-12C>G	NP_001336819.1:n.-12C>G
NM_001349891.1:c.-12C>G	NP_001336820.1:n.-12C>G
NM_001349892.1:c.-12C>G	NP_001336821.1:n.-12C>G
NM_001349893.1:c.-12C>G	NP_001336822.1:n.-12C>G
NM_178454.5:c.379C>G	NP_848549.3:p.Leu127Val
NR_146301.1:n.636C>G
NR_146302.1:n.496C>G
NR_146303.1:n.847C>G
NR_146304.1:n.707C>G
NR_146305.1:n.690C>G
NR_146306.1:n.662C>G
NR_146307.1:n.735C>G
NR_146308.1:n.802C>G
NM_001349881.2:c.379C>G	NP_001336810.1:p.Leu127Val
NM_001349882.2:c.379C>G	NP_001336811.1:p.Leu127Val
NM_001349884.2:c.379C>G MANE Select	NP_001336813.1:p.Leu127Val
NM_001349885.2:c.379C>G	NP_001336814.1:p.Leu127Val
NM_001349886.2:c.109C>G	NP_001336815.1:p.Leu37Val
NM_001349887.2:c.109C>G	NP_001336816.1:p.Leu37Val
NM_001349888.2:c.109C>G	NP_001336817.1:p.Leu37Val
NM_001349889.2:c.-12C>G	NP_001336818.1:n.-12C>G
NM_001349890.2:c.-12C>G	NP_001336819.1:n.-12C>G
NM_001349891.2:c.-12C>G	NP_001336820.1:n.-12C>G
NM_001349892.2:c.-12C>G	NP_001336821.1:n.-12C>G
NM_001349893.2:c.-12C>G	NP_001336822.1:n.-12C>G
NM_178454.6:c.379C>G	NP_848549.3:p.Leu127Val
NR_146301.2:n.513C>G
NR_146302.2:n.373C>G
NR_146303.2:n.724C>G
NR_146304.2:n.584C>G
NR_146305.2:n.567C>G
NR_146306.2:n.539C>G
NR_146307.2:n.612C>G
NR_146308.2:n.679C>G