Canonical Allele Identifier: CA341819043

Gene: DRAM2

Linked Data

• gnomAD v4: 1-111120657-C-A
• MyVariant Identifiers: chr1:g.111663279C>A (hg19) ; chr1:g.111120657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111120657C>A , CM000663.2:g.111120657C>A	GRCh38
NC_000001.10:g.111663279C>A , CM000663.1:g.111663279C>A	GRCh37
NC_000001.9:g.111464802C>A	NCBI36
NG_053089.1:g.24560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484310.6:c.376G>T MANE Select	ENSP00000503400.1:p.Val126Leu
ENST00000539140.6:c.376G>T	ENSP00000437718.1:p.Val126Leu
ENST00000286692.8:c.376G>T	ENSP00000286692.4:p.Val126Leu
ENST00000461449.5:n.150G>T
ENST00000462092.5:n.697G>T
ENST00000480600.6:n.392G>T
ENST00000484310.5:n.620G>T
ENST00000496430.6:c.*63G>T	ENSP00000473779.1:n.*63G>T
ENST00000539140.5:c.376G>T	ENSP00000437718.1:p.Val126Leu
NM_178454.4:c.376G>T	NP_848549.3:p.Val126Leu
XM_005270469.1:c.376G>T	XP_005270526.1:p.Val126Leu
XM_005270470.1:c.376G>T	XP_005270527.1:p.Val126Leu
XM_006710361.1:c.106G>T	XP_006710424.1:p.Val36Leu
XM_006710362.1:c.106G>T	XP_006710425.1:p.Val36Leu
XM_011540707.1:c.376G>T	XP_011539009.1:p.Val126Leu
XM_011540708.1:c.376G>T	XP_011539010.1:p.Val126Leu
NM_001349881.1:c.376G>T	NP_001336810.1:p.Val126Leu
NM_001349882.1:c.376G>T	NP_001336811.1:p.Val126Leu
NM_001349884.1:c.376G>T	NP_001336813.1:p.Val126Leu
NM_001349885.1:c.376G>T	NP_001336814.1:p.Val126Leu
NM_001349886.1:c.106G>T	NP_001336815.1:p.Val36Leu
NM_001349887.1:c.106G>T	NP_001336816.1:p.Val36Leu
NM_001349888.1:c.106G>T	NP_001336817.1:p.Val36Leu
NM_001349889.1:c.-15G>T	NP_001336818.1:n.-15G>T
NM_001349890.1:c.-15G>T	NP_001336819.1:n.-15G>T
NM_001349891.1:c.-15G>T	NP_001336820.1:n.-15G>T
NM_001349892.1:c.-15G>T	NP_001336821.1:n.-15G>T
NM_001349893.1:c.-15G>T	NP_001336822.1:n.-15G>T
NM_178454.5:c.376G>T	NP_848549.3:p.Val126Leu
NR_146301.1:n.633G>T
NR_146302.1:n.493G>T
NR_146303.1:n.844G>T
NR_146304.1:n.704G>T
NR_146305.1:n.687G>T
NR_146306.1:n.659G>T
NR_146307.1:n.732G>T
NR_146308.1:n.799G>T
NM_001349881.2:c.376G>T	NP_001336810.1:p.Val126Leu
NM_001349882.2:c.376G>T	NP_001336811.1:p.Val126Leu
NM_001349884.2:c.376G>T MANE Select	NP_001336813.1:p.Val126Leu
NM_001349885.2:c.376G>T	NP_001336814.1:p.Val126Leu
NM_001349886.2:c.106G>T	NP_001336815.1:p.Val36Leu
NM_001349887.2:c.106G>T	NP_001336816.1:p.Val36Leu
NM_001349888.2:c.106G>T	NP_001336817.1:p.Val36Leu
NM_001349889.2:c.-15G>T	NP_001336818.1:n.-15G>T
NM_001349890.2:c.-15G>T	NP_001336819.1:n.-15G>T
NM_001349891.2:c.-15G>T	NP_001336820.1:n.-15G>T
NM_001349892.2:c.-15G>T	NP_001336821.1:n.-15G>T
NM_001349893.2:c.-15G>T	NP_001336822.1:n.-15G>T
NM_178454.6:c.376G>T	NP_848549.3:p.Val126Leu
NR_146301.2:n.510G>T
NR_146302.2:n.370G>T
NR_146303.2:n.721G>T
NR_146304.2:n.581G>T
NR_146305.2:n.564G>T
NR_146306.2:n.536G>T
NR_146307.2:n.609G>T
NR_146308.2:n.676G>T