Canonical Allele Identifier: CA12321066
Gene: DDAH2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31729610C>G
GRCh37 chr6:g.31697387C>G
gnomAD v2:
6:31697387 C / G
gnomAD v3:
6:31729610 C / G
gnomAD v4:
chr6-31729610-C-G
Joint Max Group AF 0.69992491 (AFR)
Genomes Max Group AF 0.70004408 (AFR)
Exomes Max Group AF 0.65446549 (AFR)
dbSNP:
805305
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31729610C>G , CM000668.2:g.31729610C>G GRCh38
NC_000006.11:g.31697387C>G , CM000668.1:g.31697387C>G GRCh37
NC_000006.10:g.31805366C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416410.6:c.-65+73G>C ENSP00000397466.2:n.-65+73G>C
ENST00000375787.6:c.-60-389G>C ENSP00000364943.2:n.-60-389G>C
ENST00000375789.6:c.-449G>C ENSP00000364945.2:n.-449G>C
ENST00000375792.7:c.-64-385G>C ENSP00000364949.3:n.-64-385G>C
ENST00000416410.5:c.-65+73G>C ENSP00000397466.1:n.-65+73G>C
ENST00000480913.5:n.177+441G>C
ENST00000483792.1:n.212+441G>C
ENST00000488119.1:n.196-385G>C
NM_001303007.1:c.-449G>C NP_001289936.1:n.-449G>C
NM_013974.2:c.-64-385G>C NP_039268.1:n.-64-385G>C
XM_011514448.1:c.-65+73G>C XP_011512750.1:n.-65+73G>C
XM_011514448.2:c.-65+73G>C XP_011512750.1:n.-65+73G>C
NM_013974.3:c.-64-385G>C NP_039268.1:n.-64-385G>C
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