Canonical Allele Identifier: CA12321067
Gene: DDAH2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31729781G>A
GRCh37 chr6:g.31697558G>A
gnomAD v2:
6:31697558 G / A
gnomAD v3:
6:31729781 G / A
gnomAD v4:
chr6-31729781-G-A
Joint Max Group AF 0.70011327 (AFR)
Genomes Max Group AF 0.70009582 (AFR)
Exomes Max Group AF 0.44014285 (AMR)
dbSNP:
707916
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31729781G>A , CM000668.2:g.31729781G>A GRCh38
NC_000006.11:g.31697558G>A , CM000668.1:g.31697558G>A GRCh37
NC_000006.10:g.31805537G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416410.6:c.-163C>T ENSP00000397466.2:n.-163C>T
ENST00000375787.6:c.-61+270C>T ENSP00000364943.2:n.-61+270C>T
ENST00000375789.6:c.-620C>T ENSP00000364945.2:n.-620C>T
ENST00000375792.7:c.-65+270C>T ENSP00000364949.3:n.-65+270C>T
ENST00000416410.5:c.-163C>T ENSP00000397466.1:n.-163C>T
ENST00000480913.5:n.177+270C>T
ENST00000483792.1:n.212+270C>T
ENST00000488119.1:n.195+270C>T
NM_001303007.1:c.-620C>T NP_001289936.1:n.-620C>T
NM_013974.2:c.-65+270C>T NP_039268.1:n.-65+270C>T
XM_011514448.1:c.-163C>T XP_011512750.1:n.-163C>T
XM_011514448.2:c.-163C>T XP_011512750.1:n.-163C>T
NM_013974.3:c.-65+270C>T NP_039268.1:n.-65+270C>T
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