Canonical Allele Identifier: CA359923491
Gene: MARVELD2 HGNC NCBI

Linked Data

dbSNP Id: rs1285435426
gnomAD v2: 5-68715655-A-C
gnomAD v4: 5-69419828-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69419828A>C , CM000667.2:g.69419828A>C GRCh38
NC_000005.9:g.68715655A>C , CM000667.1:g.68715655A>C GRCh37
NC_000005.8:g.68751411A>C NCBI36
NG_017201.1:g.9717A>C
NG_017201.2:g.9717A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.443A>C MANE Select ENSP00000323264.5:p.Lys148Thr
ENST00000413223.3:c.443A>C ENSP00000398922.2:p.Lys148Thr
ENST00000436532.7:c.443A>C ENSP00000414776.2:p.Lys148Thr
ENST00000645446.1:c.443A>C ENSP00000494616.1:p.Lys148Thr
ENST00000647531.1:c.443A>C ENSP00000493858.1:p.Lys148Thr
ENST00000325631.9:c.443A>C ENSP00000323264.5:p.Lys148Thr
ENST00000413223.2:c.443A>C ENSP00000398922.2:p.Lys148Thr
ENST00000436532.6:c.443A>C ENSP00000414776.2:p.Lys148Thr
ENST00000454295.6:c.443A>C ENSP00000396244.2:p.Lys148Thr
ENST00000512803.5:c.443A>C ENSP00000423490.1:p.Lys148Thr
NM_001038603.2:c.443A>C NP_001033692.2:p.Lys148Thr
NM_001244734.1:c.443A>C NP_001231663.1:p.Lys148Thr
XM_005248445.3:c.443A>C XP_005248502.1:p.Lys148Thr
XM_005248446.3:c.443A>C XP_005248503.1:p.Lys148Thr
XM_005248447.3:c.443A>C XP_005248504.1:p.Lys148Thr
XM_005248445.4:c.443A>C XP_005248502.1:p.Lys148Thr
XM_005248446.4:c.443A>C XP_005248503.1:p.Lys148Thr
XM_005248447.4:c.443A>C XP_005248504.1:p.Lys148Thr
NM_001038603.3:c.443A>C MANE Select NP_001033692.2:p.Lys148Thr
NM_001244734.2:c.443A>C NP_001231663.1:p.Lys148Thr